New York Approved
Hereditary Cancer

Select a pre-curated test, combine multiple tests, or customize your own test for each patient. Invitae’s pricing is per clinical area for initial order and re-requisition.

All the tests on this page fall into a single clinical area. If your order contains tests from multiple clinical areas, you will need to send in two sample tubes and your order will represent two billable events. Your test results will be delivered as two reports. Please contact Client Services with any questions.

Invitae is a New York state approved clinical laboratory. The tests and genes on this page are approved or under conditional approval by New York State to be performed at Invitae and do not require a New York exemption form.

Cross-Cancer Panels
80 genes

Invitae Multi-Cancer Panel

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Genetic testing for 80 genes that are associated with hereditary cancers across eight major organ systems: breast and gyn, gastrointestinal, endocrine, genitourinary, skin, brain/nervous system, sarcoma, and hematologic.

GENES TESTED:

ALK APC ATM AXIN2 BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CASR CDC73 CDH1 CDK4 CDKN1B CDKN1C CDKN2A CEBPA CHEK2 DICER1 DIS3L2 EGFR EPCAM FH FLCN GATA2 GPC3 GREM1 HOXB13 HRAS KIT MAX MEN1 MET MITF MLH1 MSH2 MSH6 MUTYH NBN NF1 NF2 PALB2 PDGFRA PHOX2B PMS2 POLD1 POLE POT1 PRKAR1A PTCH1 PTEN RAD50 RAD51C RAD51D RB1 RECQL4 RET RUNX1 SDHA SDHAF2 SDHB SDHC SDHD SMAD4 SMARCA4 SMARCB1 SMARCE1 STK11 SUFU TERC TERT TMEM127 TP53 TSC1 TSC2 VHL WRN WT1

APC: Deletion/duplication analysis covers the 1A and 1B promoter regions.
BMPR1A: Deletion/duplication analysis covers the promoter region.
CDKN2A: Analysis supports interpretation of the p16 protein only
EGFR: Analysis is limited to the NM_005228.3:c.2369C>T p.Thr790Met variant.
EPCAM: Analysis is limited to deletion/duplication analysis
GREM1: Analysis of this gene is limited to deletion/duplication analysis of the promoter region.
HOXB13: Analysis is limited to the NM_006361.5:c.251G>A, p.Gly84Glu variant.
MITF: Analysis is limited to the NM_000248.3:c.952G>A p.Glu318Lys variant.
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
PHOX2B: Alanine repeat numbers for the commonly expanded region in exon 3 are not determined.
PTEN: Deletion/duplication analysis covers the promoter region.
SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.
TP53: Deletion/duplication analysis covers the promoter region.
WRN: Deletion/duplication analysis is not offered for exons 10 or 11.

42 genes

Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI)

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Genetic testing for 42 genes that are associated with hereditary breast, ovarian, uterine, colorectal, gastric, and pancreatic cancers.

GENES TESTED:

APC ATM AXIN2 BARD1 BMPR1A BRCA1 BRCA2 BRIP1 CDH1 CDKN2A CHEK2 DICER1 EPCAM GREM1 KIT MEN1 MLH1 MSH2 MSH6 MUTYH NBN NF1 PALB2 PDGFRA PMS2 POLD1 POLE PTEN RAD50 RAD51C RAD51D SDHA SDHB SDHC SDHD SMAD4 SMARCA4 STK11 TP53 TSC1 TSC2 VHL

APC: Deletion/duplication analysis covers the 1A and 1B promoter regions.
BMPR1A: Deletion/duplication analysis covers the promoter region.
CDKN2A: Analysis supports interpretation of the p16 protein only
EPCAM: Analysis is limited to deletion/duplication analysis
GREM1: Analysis of this gene is limited to deletion/duplication analysis of the promoter region.
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
PTEN: Deletion/duplication analysis covers the promoter region.
SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.
TP53: Deletion/duplication analysis covers the promoter region.

STAT Turnaround Time
up to 9 genes

Invitae Breast Cancer STAT Panel

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This test analyzes up to 9 established genes that are associated with a significantly increased risk of breast cancer and have medical management guidelines. Report delivery is guaranteed within 5-12 calendar days (7 days on average) of Invitae receiving the sample. Invitae Breast Cancer STAT Panel can be ordered with 7 high risk genes - BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53 - with the option to add on ATM and/or CHEK2. This panel cannot be further customized or combined with any other panel or gene(s). However, clinicians may re-requisition to additional genes within the cancer clinical area within 90 days of the initial report at no additional charge.

GENES TESTED:

Primary Panel:
BRCA1 BRCA2 CDH1 PALB2 PTEN STK11 TP53

PTEN: Deletion/duplication analysis covers the promoter region.
TP53: Deletion/duplication analysis covers the promoter region.

Add-on ATM gene:
ATM

ATM can be added at no additional charge with the same turnaround time.

Add-on CHEK2 gene:
CHEK2

CHEK2 can be added at no additional charge with the same turnaround time.

2 genes

Invitae BRCA1 and BRCA2 STAT Panel

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Genetic testing for BRCA1 and BRCA2 genes, which are associated with hereditary breast and ovarian cancer syndrome (HBOC). Report delivery is guaranteed within 5-12 calendar days (7 days on average) of Invitae receiving the sample. STAT turnaround time panels cannot be further customized or combined with any other panel or gene(s). However, clinicians may re-requisition to additional genes within the cancer clinical area within 90 days of the initial report at no additional charge.

GENES TESTED:

BRCA1 BRCA2

Breast Cancer
11 genes

Invitae Breast Cancer Guidelines-Based Panel

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Genetic testing for eleven established genes that are associated with an increased risk of breast cancer and have medical management guidelines.

GENES TESTED:

ATM BRCA1 BRCA2 CDH1 CHEK2 NBN NF1 PALB2 PTEN STK11 TP53

PTEN: Deletion/duplication analysis covers the promoter region.
TP53: Deletion/duplication analysis covers the promoter region.

up to 26 genes

Invitae Breast Cancer Panel

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Genetic testing for up to 26 genes that are associated with an increased lifetime risk of developing breast cancer, as well as other cancer types.

GENES TESTED:

Primary Panel:
ATM BARD1 BRCA1 BRCA2 BRIP1 CDH1 CHEK2 NBN NF1 PALB2 PTEN RAD50 STK11 TP53

PTEN: Deletion/duplication analysis covers the promoter region.
TP53: Deletion/duplication analysis covers the promoter region.

Add-on preliminary-evidence genes:
AKT1 FAM175A FANCC MRE11A MUTYH PIK3CA RAD51C RAD51D RINT1 SDHB SDHD XRCC2

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Breast and Gynecologic Cancer
19 genes

Invitae Breast and Gyn Cancers Guidelines-Based Panel

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Genetic testing for 19 genes that are associated with hereditary ovarian, uterine, fallopian tube, and peritoneal cancer.

GENES TESTED:

ATM BRCA1 BRCA2 BRIP1 CDH1 CHEK2 EPCAM MLH1 MSH2 MSH6 NBN NF1 PALB2 PMS2 PTEN RAD51C RAD51D STK11 TP53

EPCAM: Analysis is limited to deletion/duplication analysis
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
PTEN: Deletion/duplication analysis covers the promoter region.
TP53: Deletion/duplication analysis covers the promoter region.

up to 35 genes

Invitae Breast and Gyn Cancers Panel

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Genetic testing for up to 35 genes that are associated with hereditary breast, ovarian, and uterine cancers.

GENES TESTED:

Primary Panel:
ATM BARD1 BRCA1 BRCA2 BRIP1 CDH1 CHEK2 DICER1 EPCAM MLH1 MSH2 MSH6 NBN NF1 PALB2 PMS2 PTEN RAD50 RAD51C RAD51D SMARCA4 STK11 TP53

EPCAM: Analysis is limited to deletion/duplication analysis
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
PTEN: Deletion/duplication analysis covers the promoter region.
TP53: Deletion/duplication analysis covers the promoter region.

Add-on preliminary-evidence genes:
AKT1 CDC73 FAM175A FANCC MRE11A MUTYH PIK3CA POLD1 RINT1 SDHB SDHD XRCC2

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Colorectal Cancer
up to 18 genes

Invitae Colorectal Cancer Guidelines-Based Panel

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Genetic testing for 12 genes that are defined by medical guidelines as conferring specifically actionable risk of developing colorectal and other cancers. An additional 6 genes with emerging data and surveillance recommendations are available to add on.

GENES TESTED:

Primary Panel:
APC BMPR1A EPCAM MLH1 MSH2 MSH6 MUTYH PMS2 PTEN SMAD4 STK11 TP53

APC: Deletion/duplication analysis covers the 1A and 1B promoter regions.
BMPR1A: Deletion/duplication analysis covers the promoter region.
EPCAM: Analysis is limited to deletion/duplication analysis
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
PTEN: Deletion/duplication analysis covers the promoter region.
TP53: Deletion/duplication analysis covers the promoter region.

Add-on guidelines genes with emerging data for colorectal cancer:
BLM CHEK2 GALNT12 GREM1 POLD1 POLE

Invitae offers these five genes as add-ons to our guidelines-based colorectal panel based on recent clinical updates.

GREM1: Analysis of this gene is limited to deletion/duplication analysis of the promoter region.

up to 25 genes

Invitae Colorectal Cancer Panel

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Genetic testing for up to 25 genes that are associated with inherited colorectal cancer. Some genes also confer a risk for extracolonic cancers (e.g., ovarian, endometrial, thyroid).

GENES TESTED:

Primary Panel:
APC AXIN2 BMPR1A CDH1 CHEK2 EPCAM GREM1 MLH1 MSH2 MSH6 MUTYH PMS2 POLD1 POLE PTEN SMAD4 STK11 TP53

APC: Deletion/duplication analysis covers the 1A and 1B promoter regions.
BMPR1A: Deletion/duplication analysis covers the promoter region.
EPCAM: Analysis is limited to deletion/duplication analysis
GREM1: Analysis of this gene is limited to deletion/duplication analysis of the promoter region.
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
PTEN: Deletion/duplication analysis covers the promoter region.
TP53: Deletion/duplication analysis covers the promoter region.

Add-on preliminary-evidence genes:
ATM BLM BUB1B ENG FLCN GALNT12 MLH3

The BLM, GALNT12, GREM1, POLD1, and POLE genes have been included in the recent NCCN Genetic/Familial High-Risk Assessment Colorectal Guidelines

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Additional Organ Systems
up to 19 genes

Invitae Gastric Cancer Panel

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Genetic testing for up to 19 genes associated with hereditary gastric cancer. Many of these genes are also associated with other cancer types.

GENES TESTED:

Primary Panel:
APC BMPR1A CDH1 EPCAM KIT MLH1 MSH2 MSH6 NF1 PDGFRA PMS2 SDHA SDHB SDHC SDHD SMAD4 STK11 TP53

APC: Deletion/duplication analysis covers the 1A and 1B promoter regions.
BMPR1A: Deletion/duplication analysis covers the promoter region.
EPCAM: Analysis is limited to deletion/duplication analysis
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.
TP53: Deletion/duplication analysis covers the promoter region.

Add-on preliminary-evidence gene:
CTNNA1

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

up to 14 genes

Invitae Hereditary Paraganglioma-Pheochromocytoma Panel

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Genetic testing for up to 14 genes associated with hereditary paraganglioma-pheochromocytoma syndrome (PGL/PCC).

GENES TESTED:

Primary Panel:
MAX NF1 RET SDHA SDHAF2 SDHB SDHC SDHD TMEM127 VHL

SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.

Add-on preliminary-evidence genes:
EGLN1 FH KIF1B MEN1

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

5 genes

Invitae Hyperparathyroidism Panel

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Genetic testing for five genes that are associated with hereditary hyperparathyroidism (HPT) and parathyroid tumors/cancer.

GENES TESTED:

CASR CDC73 CDKN1B MEN1 RET

up to 12 genes

Invitae Melanoma Panel

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Genetic testing for up to 12 genes associated with an increased lifetime risk of developing melanoma as well as other cancer types.

GENES TESTED:

Primary Panel:
BAP1 BRCA2 CDK4 CDKN2A MITF POT1 PTEN RB1 TP53

CDKN2A: Analysis supports interpretation of the p16 protein only
MITF: Analysis is limited to the NM_000248.3:c.952G>A p.Glu318Lys variant.
PTEN: Deletion/duplication analysis covers the promoter region.
TP53: Deletion/duplication analysis covers the promoter region.

Add-on preliminary-evidence genes:
BRCA1 MC1R TERT

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

up to 45 genes

Invitae Myelodysplastic Syndrome/Leukemia Panel

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Genetic testing for up to 21 genes that are associated with predisposition to myelodysplastic syndrome and acute leukemia.

GENES TESTED:

Primary Panel:
ATM BLM CEBPA EPCAM GATA2 HRAS MLH1 MSH2 MSH6 NBN NF1 PMS2 RUNX1 TERC TERT TP53

EPCAM: Analysis is limited to deletion/duplication analysis
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
TP53: Deletion/duplication analysis covers the promoter region.

Add-on preliminary-evidence genes:
BRCA1 BRCA2 BRIP1 CHEK2 PALB2

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Add-on dyskeratosis congenita genes:
CTC1 DKC1 NHP2 NOP10 TERC TERT TINF2

Dyskeratosis congenita is a clinically and genetically heterogeneous condition that is characterized by abnormal skin pigmentation, nail dystrophy, oral leukoplakia, and increased risk of progressive bone marrow failure and development of hematologic malignancies. Additional genes associated with dyskeratosis congenita may be added to this panel at no additional charge for patients with dyskeratosis congenita-associated features.

Add-on Fanconi anemia genes:
BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM PALB2 RAD51C SLX4 XRCC2

Fanconi anemia is a multisystemic disorder that is characterized by a variable spectrum of physical abnormalities, developmental delay, and increased risk of progressive bone marrow failure and hematologic malignancy development. Additional genes associated with Fanconi anemia may be added to this panel at no additional charge for patients with Fanconi anemia-associated features.

FANCD2: Deletion/duplication analysis is not offered for exons 14-17.

up to 40 genes

Invitae Nervous System/Brain Cancer Panel

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Genetic testing for up to 40 genes that are associated with hereditary cancers of the central and peripheral nervous system.

GENES TESTED:

Primary Panel:
ALK APC DICER1 EPCAM HRAS MEN1 MLH1 MSH2 MSH6 NF1 NF2 PHOX2B PMS2 PRKAR1A PTCH1 PTEN RB1 SMARCA4 SMARCB1 SMARCE1 SUFU TP53 TSC1 TSC2 VHL

APC: Deletion/duplication analysis covers the 1A and 1B promoter regions.
EPCAM: Analysis is limited to deletion/duplication analysis
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
PHOX2B: Alanine repeat numbers for the commonly expanded region in exon 3 are not determined.
PTEN: Deletion/duplication analysis covers the promoter region.
TP53: Deletion/duplication analysis covers the promoter region.

Add-on preliminary-evidence genes:
BAP1 BARD1 EZH2 GPC3 KIF1B POT1 PTCH2

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Add-on hereditary paraganglioma pheochromocytoma genes:
MAX RET SDHA SDHAF2 SDHB SDHC SDHD TMEM127

Head and neck paragangliomas are neuroendocrine tumors that may occur in families with hereditary paraganglioma pheochromocytoma (PGL/PCC) syndrome. Clinicians can choose to include eight genes that are associated with PGL/PCC at no additional charge.

SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.

up to 28 genes

Invitae Pancreatic Cancer Panel

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Genetic testing for up to 28 genes that are associated with hereditary pancreatic cancer, including exocrine tumors and pancreatic neuroendocrine tumors (PanNET).

GENES TESTED:

Primary Panel:
APC ATM BMPR1A BRCA1 BRCA2 CDKN2A EPCAM MEN1 MLH1 MSH2 MSH6 NF1 PALB2 PMS2 SMAD4 STK11 TP53 TSC1 TSC2 VHL

APC: Deletion/duplication analysis covers the 1A and 1B promoter regions.
BMPR1A: Deletion/duplication analysis covers the promoter region.
CDKN2A: Analysis supports interpretation of the p16 protein only
EPCAM: Analysis is limited to deletion/duplication analysis
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
TP53: Deletion/duplication analysis covers the promoter region.

Add-on preliminary-evidence genes:
CDK4 FANCC PALLD

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Add-on chronic pancreatitis genes:
CASR CFTR CTRC PRSS1 SPINK1

Chronic pancreatitis has been reported as a risk factor for pancreatic cancer. Depending on the clinical presentation of the patient, clinicians may wish to broaden analysis by including genes that are associated with hereditary pancreatitis. These genes can be added at no additional charge.

CFTR: Analysis includes the intronic variants: NM_000492.3:c.3718-2477C>T (also known as 3849+10kbC>T), c.1210-34TG[12]T[5] (also known as T5TG12), c.1210-34TG[11]T[5] (also known as T5TG11), and c.1679+1634A>G.

up to 14 genes

Invitae Prostate Cancer Panel

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Genetic testing for up to 14 genes associated with an increased lifetime risk of developing prostate cancer as well as other cancer types.

GENES TESTED:

Primary Panel:
ATM BRCA1 BRCA2 CHEK2 EPCAM HOXB13 MLH1 MSH2 MSH6 NBN PMS2 TP53

EPCAM: Analysis is limited to deletion/duplication analysis
HOXB13: Analysis is limited to the NM_006361.5:c.251G>A, p.Gly84Glu variant.
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
TP53: Deletion/duplication analysis covers the promoter region.

Add-on preliminary-evidence genes:
PALB2 RAD51D

In addition to the primary panel, clinicians can also choose to include genes that have limited evidence of association with hereditary prostate cancer. At this time, the association of these genes with hereditary prostate cancer remains uncertain; however, some clinicians may wish to include genes that may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

up to 30 genes

Invitae Renal/Urinary Tract Cancers Panel

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Genetic testing for up to 30 genes associated with hereditary renal/urinary tract cancers, including cancer of the the kidneys, renal pelvis, ureters, bladder, and urethra.

GENES TESTED:

Primary Panel:
BAP1 CDC73 CDKN1C DICER1 DIS3L2 EPCAM FH FLCN GPC3 MET MLH1 MSH2 MSH6 PMS2 PTEN SDHB SDHC SMARCA4 SMARCB1 TP53 TSC1 TSC2 VHL WT1

EPCAM: Analysis is limited to deletion/duplication analysis
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
PTEN: Deletion/duplication analysis covers the promoter region.
TP53: Deletion/duplication analysis covers the promoter region.

Add-on preliminary-evidence genes:
BUB1B CEP57 MITF PALB2 SDHA SDHD

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

MITF: Analysis is limited to the NM_000248.3:c.952G>A p.Glu318Lys variant.
SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.

up to 41 genes

Invitae Sarcoma Panel

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Genetic testing for up to 41 genes that are associated with a hereditary predisposition to the development of sarcomas—particularly bone and soft tissue sarcoma.

GENES TESTED:

Primary Panel:
APC BLM CDKN1C DICER1 EPCAM FH HRAS KIT MLH1 MSH2 MSH6 NBN NF1 PDGFRA PMS2 PRKAR1A PTCH1 RB1 RECQL4 SDHA SDHB SDHC SDHD SUFU TP53 WRN

APC: Deletion/duplication analysis covers the 1A and 1B promoter regions.
EPCAM: Analysis is limited to deletion/duplication analysis
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.
TP53: Deletion/duplication analysis covers the promoter region.
WRN: Deletion/duplication analysis is not offered for exons 10 or 11.

Add-on preliminary-evidence genes:
CDKN2A POT1 PTCH2 TSC1 TSC2

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

CDKN2A: Analysis supports interpretation of the p16 protein only

Add-on Diamond-Blackfan anemia genes:
GATA1 RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

Diamond-Blackfan anemia is a genetically heterogeneous condition that is characterized by anemia, congenital malformations, growth restriction, and an increased risk for leukemia and sarcoma. Genes associated with Diamond-Blackfan anemia may be added to this panel for patients with Diamond-Blackfan anemia-associated features at no additional charge.

up to 11 genes

Invitae Thyroid Cancer Panel

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This test analyzes up to 11 genes associated with hereditary thyroid cancer. Many of these genes are also associated with other types of cancer.

GENES TESTED:

Primary Panel:
APC CHEK2 DICER1 PRKAR1A PTEN RET TP53

APC: Deletion/duplication analysis covers the 1A and 1B promoter regions.
PTEN: Deletion/duplication analysis covers the promoter region.
TP53: Deletion/duplication analysis covers the promoter region.

Add-on preliminary-evidence genes:
MEN1 SDHB SDHD WRN

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

WRN: Deletion/duplication analysis is not offered for exons 10 or 11.

48 genes

Invitae Pediatric Solid Tumors Panel

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Genetic testing for 48 genes that are associated with a hereditary predisposition to the development of pediatric solid tumors.

GENES TESTED:

ALK APC AXIN2 BAP1 BLM BMPR1A CDC73 CDKN1C DICER1 DIS3L2 EPCAM FH GPC3 HRAS MAX MEN1 MLH1 MSH2 MSH6 NBN NF1 NF2 PHOX2B PMS2 PRKAR1A PTCH1 PTEN RB1 RECQL4 RET SDHA SDHAF2 SDHB SDHC SDHD SMAD4 SMARCA4 SMARCB1 SMARCE1 STK11 SUFU TMEM127 TP53 TSC1 TSC2 VHL WRN WT1

APC: Deletion/duplication analysis covers the 1A and 1B promoter regions.
BMPR1A: Deletion/duplication analysis covers the promoter region.
EPCAM: Analysis is limited to deletion/duplication analysis
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
PHOX2B: Alanine repeat numbers for the commonly expanded region in exon 3 are not determined.
PTEN: Deletion/duplication analysis covers the promoter region.
SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.
TP53: Deletion/duplication analysis covers the promoter region.
WRN: Deletion/duplication analysis is not offered for exons 10 or 11.

16 genes

Invitae Pediatric Hematologic Malignancies Panel

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Genetic testing for 16 genes that are associated with predisposition to childhood-onset hematologic malignancies.

GENES TESTED:

ATM BLM CEBPA EPCAM GATA2 HRAS MLH1 MSH2 MSH6 NBN NF1 PMS2 RUNX1 TERC TERT TP53

EPCAM: Analysis is limited to deletion/duplication analysis
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
TP53: Deletion/duplication analysis covers the promoter region.

up to 32 genes

Invitae Pediatric Nervous System/Brain Tumors Panel

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Genetic testing for up to 32 genes that are associated with a hereditary predisposition to developing pediatric cancers of the central and peripheral nervous system.

GENES TESTED:

Primary Panel:
ALK APC DICER1 EPCAM HRAS MEN1 MLH1 MSH2 MSH6 NF1 NF2 PHOX2B PMS2 PRKAR1A PTCH1 PTEN RB1 SMARCB1 SMARCE1 SUFU TP53 TSC1 TSC2 VHL

APC: Deletion/duplication analysis covers the 1A and 1B promoter regions.
EPCAM: Analysis is limited to deletion/duplication analysis
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
PHOX2B: Alanine repeat numbers for the commonly expanded region in exon 3 are not determined.
PTEN: Deletion/duplication analysis covers the promoter region.
TP53: Deletion/duplication analysis covers the promoter region.

Add-on hereditary paraganglioma-pheochromocytoma genes:
MAX RET SDHA SDHAF2 SDHB SDHC SDHD TMEM127

Head-and-neck paragangliomas are neuroendocrine tumors that may occur in families with hereditary paraganglioma pheochromocytoma (PGL/PCC) syndrome. Clinicians can choose to include eight genes that are associated with PGL/PCC at no additional charge.

SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.

1 gene

Invitae Ataxia-Telangiectasia Test

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Genetic testing for ATM which is associated with autosomal recessive ataxia-telangiectasia (A-T).

GENES TESTED:

ATM

1 gene

Invitae BAP1 Hereditary Cancer Predisposition Syndrome Test

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Genetic testing for BAP1 which is associated with BAP1 hereditary cancer predisposition syndrome.

GENES TESTED:

BAP1

up to 3 genes

Invitae Basal Cell Nevus Syndrome Panel

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Genetic testing for PTCH1 which is associated with basal cell nevus syndrome (BCNS), also known as Gorlin syndrome.

GENES TESTED:

Primary Panel:
PTCH1 SUFU

Add-on preliminary-evidence gene:
PTCH2

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

1 gene

Invitae Birt-Hogg-Dubé Syndrome Test

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Genetic testing for FLCN which is associated with Birt-Hogg-Dubé syndrome, affecting the skin, lungs, and kidneys with predisposition to pneumothorax and renal cancer.

GENES TESTED:

FLCN

1 gene

Invitae Bloom Syndrome Test

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Genetic testing for BLM, which is associated with Bloom syndrome. Features include short stature, sun-related skin rash, infertility, and various cancers.

GENES TESTED:

BLM

1 gene

Invitae Carney Complex Test

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Genetic testing for the PRKAR1A gene, which is associated with Carney complex, a condition that is characterized by myxomas, endocrine tumors, schwannomas, and skin pigmentary findings.

GENES TESTED:

PRKAR1A

1 gene

Invitae CASR-Related Conditions Test

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Genetic testing for the CASR gene, which is associated with benign familial hypocalciuric hypercalcemia (BFHH), neonatal severe hyperparathyroidism (NSHPT), familial isolated hyperparathyroidism (FIHP), and autosomal dominant hypocalcemia (ADH).

GENES TESTED:

CASR

1 gene

Invitae CDC73-Related Conditions Test

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Genetic testing for CDC73, which is associated with hyperparathyroidism-jaw tumor (HPT-JT) syndrome, parathyroid carcinoma, and familial isolated hyperparathyroidism (FIHP).

GENES TESTED:

CDC73

5 genes

Invitae Chronic Pancreatitis Panel

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Chronic pancreatitis is characterized by persistent inflammation of the pancreas, acute and recurrent pain, maldigestion, and eventually diabetes mellitus.

GENES TESTED:

CASR CFTR CTRC PRSS1 SPINK1

CFTR: Analysis includes the intronic variants: NM_000492.3:c.3718-2477C>T (also known as 3849+10kbC>T), c.1210-34TG[12]T[5] (also known as T5TG12), c.1210-34TG[11]T[5] (also known as T5TG11), and c.1679+1634A>G.

5 genes

Invitae Constitutional Mismatch Repair-Deficiency Panel

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Genetic testing for biallelic pathogenic variants in EPCAM, MLH1, MSH2, MSH6, and PMS2 which can cause constitutional mismatch repair-deficiency (CMMR-D).

GENES TESTED:

EPCAM MLH1 MSH2 MSH6 PMS2

EPCAM: Analysis is limited to deletion/duplication analysis
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).

1 gene

Invitae Costello Syndrome Test

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Genetic testing for HRAS, the gene associated with Costello syndrome—characterized by coarse facial features, intellectual disability, failure to thrive, and childhood malignancy.

GENES TESTED:

HRAS

1 gene

Invitae DICER1 Syndrome Test

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Genetic testing for DICER1 which is associated with DICER1 syndrome, a tumor syndrome.

GENES TESTED:

DICER1

1 gene

Invitae Familial Acute Myeloid Leukemia with Mutated CEBPA Test

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Genetic testing for the gene CEBPA, which is associated with autosomal dominant familial acute myeloid leukemia (AML) syndrome, a condition associated with an inherited predisposition to hematologic malignancies.

GENES TESTED:

CEBPA

1 gene

Invitae Familial Adenomatous Polyposis Test

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Genetic testing for APC which can cause Turcot syndrome, familial adenomatous polyposis (FAP), attenuated FAP (AFAP), and Gardner syndrome.

GENES TESTED:

APC

APC: Deletion/duplication analysis covers the 1A and 1B promoter regions.

7 genes

Invitae Familial Gastrointestinal Stromal Tumor Syndrome Panel

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Genetic testing for 7 genes associated with familial gastrointestinal stromal tumor syndrome (GIST).

GENES TESTED:

KIT NF1 PDGFRA SDHA SDHB SDHC SDHD

SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.

up to 3 genes

Invitae Familial Neuroblastoma Panel

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This test analyzes up to 3 genes associated with familial neuroblastoma. These neuroblast-originating tumors often found in the adrenal gland.

GENES TESTED:

Primary Panel:
ALK PHOX2B

PHOX2B: Alanine repeat numbers for the commonly expanded region in exon 3 are not determined.

Add-on preliminary-evidence gene:
KIF1B

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

1 gene

Invitae Familial Platelet Disorder with Propensity to Myeloid Malignancy Test

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Genetic testing for the gene RUNX1, which is associated with autosomal dominant familial platelet disorder with propensity to myeloid malignancy (FPD/AML) and other hematological symptoms, including thrombocytopenia and abnormal platelet aggregation.

GENES TESTED:

RUNX1

17 genes

Invitae Fanconi Anemia Panel

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Genetic testing for 17 genes associated with Fanconi anemia (FA), a condition characterized by progressive bone marrow failure, physical abnormalities, and increased risk of malignancy.

GENES TESTED:

BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM PALB2 RAD51C SLX4 XRCC2

FANCD2: Deletion/duplication analysis is not offered for exons 14-17.

1 gene

Invitae GATA2 Deficiency Test

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Genetic testing for the gene GATA2, which is associated with autosomal dominant familial myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML) and other non-hematological symptoms, including immunodeficiency and lymphedema.

GENES TESTED:

GATA2

2 genes

Invitae Hereditary Breast and Ovarian Cancer Syndrome Panel

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Genetic testing for BRCA1 and BRCA2 genes, which are associated with hereditary breast and ovarian cancer syndrome (HBOC).

GENES TESTED:

BRCA1 BRCA2

1 gene

Invitae Hereditary Diffuse Gastric Cancer Syndrome Test

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Genetic testing for CDH1 which is associated with hereditary diffuse gastric cancer syndrome (HDGC); increases risk of both gastric and lobular breast cancer.

GENES TESTED:

CDH1

1 gene

Invitae Hereditary Leiomyomatosis and Renal Cell Cancer Test

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Genetic testing for FH, which is associated with hereditary leiomyomatosis and renal cell cancer (HLRCC); features include cutaneous and uterine leiomyomas and renal tumors.

GENES TESTED:

FH

1 gene

Invitae Hereditary Papillary Renal Cell Carcinoma Test

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Genetic testing for MET which is associated with hereditary papillary renal cell carcinoma (HPRCC), which causes type 1 papillary renal cell carcinoma.

GENES TESTED:

MET

2 genes

Invitae Juvenile Polyposis Syndrome Panel

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Genetic testing for BMPR1A and SMAD4, which are associated with juvenile polyposis syndrome (JPS).

GENES TESTED:

BMPR1A SMAD4

BMPR1A: Deletion/duplication analysis covers the promoter region.

1 gene

Invitae Li-Fraumeni Syndrome Test

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Genetic testing for TP53 the gene associated with Li-Fraumeni syndrome (LFS).

GENES TESTED:

TP53

TP53: Deletion/duplication analysis covers the promoter region.

5 genes

Invitae Lynch Syndrome Panel

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Genetic testing for 5 genes associated with Lynch syndrome. This condition increases the risk for colorectal, ovarian, and uterine cancer.

GENES TESTED:

EPCAM MLH1 MSH2 MSH6 PMS2

EPCAM: Analysis is limited to deletion/duplication analysis
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).

2 genes

Invitae Melanoma-Pancreatic Cancer Syndrome Panel

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Genetic testing for CDKN2A and CDK4 which cause melanoma-pancreatic cancer syndrome (M-PCS) and familial atypical mole-malignant melanoma syndrome (FAMMM).

GENES TESTED:

CDK4 CDKN2A

CDKN2A: Analysis supports interpretation of the p16 protein only

1 gene

Invitae Multiple Endocrine Neoplasia Type 1 Test

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Genetic testing for MEN1 which is associated with multiple endocrine neoplasia type 1 (MEN1).

GENES TESTED:

MEN1

1 gene

Invitae Multiple Endocrine Neoplasia Type 2 Test

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Genetic testing for RET which is associated with multiple endocrine neoplasia type 2 (MEN2), including MEN2A, MEN2B, and familial medullary thyroid cancer (FMTC).

GENES TESTED:

RET

1 gene

Invitae MUTYH-Associated Polyposis Syndrome Test

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Genetic testing for MUTYH which is associated with autosomal recessive MUTYH-associated polyposis syndrome (MAP).

GENES TESTED:

MUTYH

up to 2 genes

Invitae Neurofibromatosis Type 1 Test

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This test analyzes the NF1 gene, which is associated with neurofibromatosis type 1. Features include café-au-lait macules, neurofibromas, axillary/inguinal freckling, and Lisch nodules.

GENES TESTED:

Primary Panel:
NF1

Add-on Legius syndrome gene:
SPRED1

The RASopathies exhibit several overlapping phenotypic features due to their common underlying Ras/MAPK pathway dysregulation. NF1 overlaps clinically with Legius syndrome. Both syndromes are characterized by the presence of multiple café-au-lait spots and axillary and inguinal freckling, but NF1 has the additional features of neurofibromas, Lisch nodules, and optic gliomas. SPRED1 is the gene associated with Legius syndrome. Depending on the clinical presentation of the patient, clinicians may wish to include SPRED1 in this test for a broader analysis.

up to 2 genes

Invitae Neurofibromatosis Type 2 Test

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This test analyzes NF2, which is associated with neurofibromatosis type 2, a condition predisposing those who have it to the development of benign central nervous system tumors.

GENES TESTED:

Primary Panel:
NF2

Add-on schwannomatosis gene:
SMARCB1

Prior to the development of vestibular schwannomas, NF2 can be difficult to distinguish from schwannomatosis. The development of vestibular schwannomas, usually by age 30, is a hallmark of NF2, whereas in schwannomatosis, vestibular schwannomas are absent. This gene can be added for no additional charge.

1 gene

Invitae Nijmegen Breakage Syndrome Test

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Genetic testing for NBN which is associated with Nijmegen breakage syndrome (NBS). Heterozygous female carriers are at increased risk for breast and other cancers.

GENES TESTED:

NBN

1 gene

Invitae Oligodontia-Colorectal Cancer Syndrome Test

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Genetic testing for AXIN2, which is associated with oligodontia-colorectal cancer syndrome characterized by childhood oligodontia and adult-onset colorectal cancer.

GENES TESTED:

AXIN2

1 gene

Invitae PTEN-Related Disorders Test

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Genetic testing for PTEN pathogenic variants that are associated with PTEN hamartoma tumor syndrome and PTEN-related autism spectrum disorder.

GENES TESTED:

PTEN

PTEN: Deletion/duplication analysis covers the promoter region.

1 gene

Invitae Perlman Syndrome Test

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Genetic testing for the gene DIS3L2, which is associated with Perlman syndrome, a congenital overgrowth condition that is characterized by high neonatal mortality, distinctive facies, multiple congenital anomalies, and Wilms tumor susceptibility.

GENES TESTED:

DIS3L2

1 gene

Invitae Peutz-Jeghers Syndrome Test

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Genetic testing for STK11 the gene associated with Peutz-Jeghers syndrome (PJS); features include gastrointestinal polyps, mucocutaneous pigmentation, and cancer predisposition.

GENES TESTED:

STK11

1 gene

Invitae RECQL4-Related Disorders Test

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Genetic testing for the RECQL4 gene, which is associated with a spectrum of autosomal recessive disorders that include (but are not limited to) radial ray defects, skeletal abnormalities, and short stature.

GENES TESTED:

RECQL4

1 gene

Invitae Retinoblastoma Test

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Genetic testing of the RB1 gene for hereditary retinoblastoma; other cancer risks include pinealoma, osteosarcoma, soft tissue sarcomas, and melanoma.

GENES TESTED:

RB1

2 genes

Invitae Rhabdoid Tumor Predisposition Syndrome Panel

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Genetic testing for SMARCB1 and SMARCA4 which are associated with rhabdoid tumor predisposition syndrome (RTPS).

GENES TESTED:

SMARCA4 SMARCB1

up to 2 genes

Invitae Schwannomatosis Test

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Genetic testing for schwannomatosis, a condition characterized by multiple non-vestibular schwannomas, primarily along peripheral nerves, and generally presents in adulthood with chronic pain.

GENES TESTED:

Primary Panel:
SMARCB1

Add-on neurofibromatosis type 2 gene:
NF2

Individuals with multiple schwannomas may eventually fulfill NF2 diagnostic criteria and some simplex cases of schwannomatosis are mosaic for a pathogenic NF2 variant. This gene can be added to this test for no additional charge.

1 gene

Invitae Simpson-Golabi-Behmel Syndrome Test

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Genetic testing for the gene GPC3, which is associated with Simpson-Golabi-Behmel syndrome (SGBS1), an overgrowth condition with distinctive facies and risk for embryonal tumors.

GENES TESTED:

GPC3

1 gene

Invitae Small Cell Carcinoma of the Ovary Hypercalcemic Type Test

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Genetic testing for SMARCA4 which causes small cell carcinoma of the ovary hypercalcemic type (SCCOHT) and rhabdoid tumor predisposition syndrome type 2 (RTPS2).

GENES TESTED:

SMARCA4

2 genes

Invitae Tuberous Sclerosis Complex Panel

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Genetic testing for TSC1 and TSC2 which are associated with tuberous sclerosis complex (TSC) featuring kidney, brain, skin, lung, and heart tumors.

GENES TESTED:

TSC1 TSC2

1 gene

Invitae von Hippel-Lindau Syndrome Test

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Genetic testing for VHL which is associated with von Hippel-Lindau syndrome (VHL).

GENES TESTED:

VHL

1 gene

Invitae Weaver Syndrome Test

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Genetic testing for the EZH2 gene, which is associated with Weaver syndrome—an overgrowth condition with distinctive facies, skeletal findings, and intellectual disability.

GENES TESTED:

EZH2

1 gene

Invitae Werner Syndrome Test

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Genetic testing of the WRN gene, which is associated with Werner syndrome—a condition that is characterized by short stature, premature aging, and cancer predisposition.

GENES TESTED:

WRN

WRN: Deletion/duplication analysis is not offered for exons 10 or 11.

4 genes

Invitae Wilms Tumor Panel

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Genetic testing for four genes that are associated with both isolated and syndromic causes of Wilms tumor: Denys-Drash syndrome (DDS), WAGR, Frasier syndrome, and Beckwith-Wiedemann syndrome.

GENES TESTED:

CDKN1C DIS3L2 GPC3 WT1

1 gene

Invitae WT1-Related Disorders Test

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Genetic testing of the WT1 gene, which is associated with both isolated Wilms tumor and syndromic cases of Wilms tumor, including WAGR, Denys-Drash, and Frasier syndromes.

GENES TESTED:

WT1

Gene
A
Synonym(s): AKT; CWS6; PKB; PKB-ALPHA; PRKBA; RAC; RAC-ALPHA

The AKT1 gene has preliminary evidence supporting a correlation with autosomal dominant Cowden syndrome and Cowden-like syndrome (PMID: 23246288). Additionally, the AKT1 gene is associated with Proteus syndrome where the pathogenic variant is constitutionally mosaic and not inherited (MedGen UID: 39008).

ALK
Synonym(s): CD246; NBLST3

The ALK gene is associated with autosomal dominant neuroblastoma susceptibility (MedGen UID: 414083).

APC
Synonym(s): BTPS2; DP2; DP2.5; GS; DP3; PPP1R46

The APC gene is associated with autosomal dominant familial adenomatous polyposis (FAP) (MedGen UID: 398651) and attenuated FAP (AFAP) (MedGen UID: 436213).

ATM
Synonym(s): AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1

The ATM gene is associated with an increased risk for autosomal dominant breast and pancreatic cancer (PMID: 15928302, 15942625, 16998505, 22585167, 26483394, 26662178). There is also preliminary evidence supporting a correlation with autosomal dominant colorectal, prostate, and possibly other cancers (PMID: 15928302, 15942625, 26662178). Additionally, the ATM gene is associated with autosomal recessive ataxia-telangiectasia (A-T) (MedGen UID: 439).

Synonym(s): AXIL; ODCRCS

The AXIN2 gene is associated with autosomal dominant oligodontia-colorectal cancer syndrome (MedGen UID: 324868).

B
Synonym(s): HUCEP-13; hucep-6; UCHL2

The BAP1 gene is associated with autosomal dominant BAP1 tumor predisposition syndrome (MedGen UID: 482122).

The BARD1 gene is associated with an increased risk for autosomal dominant breast and possibly ovarian cancer in individuals who carry a single pathogenic BARD1 variant (MedGen UID: 87542) (PMID: 21344236, 20077502, 22006311, 16825437).

BLM
Synonym(s): BS; RECQ2; RECQL2; RECQL3

The BLM gene is associated with autosomal recessive Bloom syndrome (MedGen UID: 2685). Additionally, the BLM gene has preliminary evidence supporting a correlation with autosomal dominant colorectal cancer in individuals who carry a single pathogenic variant (PMID: 12242432, 26358404, 12702560, 18210922).

Synonym(s): 10q23del; ACVRLK3; ALK3; CD292; SKR5

The BMPR1A gene is associated with autosomal dominant juvenile polyposis syndrome (JPS) (MedGen UID: 87518).

The BRCA1 gene is associated with autosomal dominant hereditary breast and ovarian cancer (HBOC) syndrome (MedGen UID: 151793).

Synonym(s): FANCD1; FACD; FANCD

The BRCA2 gene is associated with autosomal dominant hereditary breast and ovarian cancer (HBOC) syndrome (MedGen UID: 151793) and autosomal recessive Fanconi anemia, type D1 (FA-D1) (MedGen UID: 325420).

The BRIP1 gene is associated with an increased risk for autosomal dominant breast and ovarian cancer in individuals who carry a single pathogenic BRIP1 variant (PMID: 17033622, 21964575). Additionally, the BRIP1 gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 323015).

The BUB1B gene is associated with autosomal recessive mosaic variegated aneuploidy syndrome (MVA) (MedGen UID: 338026). Additionally, the BUB1B gene has preliminary evidence supporting a correlation with colon cancer.

C
Synonym(s): CAR; EIG8; FHH; FIH; GPRC2A; HHC; HHC1; HYPOC1; NSHPT; PCAR1

The CASR gene is associated with autosomal dominant familial isolated hyperparathyroidism (FIHP) (PMID: 14985373), autosomal dominant hypocalcemia (ADH) (MedGen UID: 87438), benign familial hypocalciuric hypercalcemia (BFHH) (MedGen UID: 369200), and autosomal recessive neonatal severe hyperparathyroidism (NSHPT) (MedGen UID: 331326). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 18756473) and chronic pancreatitis (PMID: 14641934, 16497624).

Synonym(s): C1orf28; FIHP; HPTJT; HRPT1; HRPT2; HYX

The CDC73 gene is associated with autosomal dominant hyperparathyroidism-jaw tumor syndrome (HPT-JT), parathyroid carcinoma, and familial isolated hyperparathyroidism (FIH) (MedGen UID: 310065, 146361, 333554), collectively referred to as CDC73-related conditions.

Synonym(s): UVO

The CDH1 gene is associated with autosomal dominant hereditary diffuse gastric cancer (HDGC) syndrome (MedGen UID: 310839), lobular breast cancer (PMID: 11729114, 17545690, 25979631), and possibly an increased risk for colon cancer (PMID: 10072428).

The CDK4 gene is associated with autosomal dominant hereditary cutaneous melanoma (MedGen UID: 268851).

The CDKN1B gene is associated with autosomal dominant multiple endocrine neoplasia (MEN), type 4 (MedGen UID: 373469).

Synonym(s): BWCR; BWS; KIP2; p57; p57Kip2; WBS

The CDKN1C gene is associated with autosomal dominant Beckwith-Wiedemann syndrome (MedGen UID: 2562). Additionally, the CDKN1C gene has preliminary evidence supporting a correlation with autosomal dominant intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGe syndrome) (MedGen UID: 337364).

Synonym(s): CDKN2; MLM

The CDKN2A gene is associated with autosomal dominant hereditary melanoma-pancreatic cancer syndrome (MedGen UID: 325450).

Synonym(s): C/EBP-alpha; CEBP

The CEBPA gene is associated with autosomal dominant familial acute myeloid leukemia (MedGen UID: 9730).

The CEP57 gene has evidence supporting a correlation with autosomal recessive mosaic variegated aneuploidy syndrome (MedGen UID: 481473).

Synonym(s): ABC35; ABCC7; CF; CFTR/MRP; MRP7; TNR-CFTR; dJ760C5.1

The CFTR gene is associated with autosomal recessive cystic fibrosis (MedGen UID: 41393) and congenital absence of the vas deferens (CAVD) (MedGen UID: 98021). Additionally, the CFTR gene is associated with an increased risk for chronic pancreatitis (PMID: 17003641, 11729110).

Synonym(s): RAD53

The CHEK2 gene is associated with an increased risk for autosomal dominant breast, colon, thyroid and prostate cancers (PMID: 15492928, 18759107, 21807500, 21876083, 25431674).

Synonym(s): C17orf68

The CTC1 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 78580)

The CTNNA1 gene has preliminary evidence supporting a correlation with hereditary diffuse gastric cancer (HGDC).

Synonym(s): CLCR; ELA4

The CTRC gene is associated with an increased risk for chronic pancreatitis (MedGen UID: 116056).

D
Synonym(s): DCR1; Dicer; Dicer1e; HERNA; K12H4.8-LIKE; MNG1; RMSE2

The DICER1 gene is associated with autosomal dominant DICER1-related pleuropulmonary blastoma familial tumor predisposition syndrome (MedGen UID: 449020).

Synonym(s): FAM6A; hDIS3L2; PRLMNS

The DIS3L2 gene is associated with autosomal recessive Perlman syndrome (MedGen UID: 162909). Additionally, the DIS3L2 gene has preliminary evidence supporting a correlation with autosomal dominant non-syndromic Wilms tumor (PMID: 25670083).

Synonym(s): DKC

The DKC1 gene is associated with X-linked dyskeratosis congenita (MedGen UID: 216941).

E
Synonym(s): ERBB

The EGFR gene is associated with an increased risk for autosomal dominant hereditary lung cancer.

Synonym(s): C1orf12

The EGLN1 gene has preliminary evidence supporting a correlation with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes (MedGen UID: 313270).

ENG
Synonym(s): ORW1; ORW

The ENG gene is associated with autosomal dominant hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 52657) and hereditary pulmonary arterial hypertension (PAH) (MedGen UID: 57749). Additionally, the ENG gene has preliminary evidence supporting a correlation with autosomal dominant juvenile polyposis syndrome (JPS) (PMID: 16287957, 23399955).

Synonym(s): DIAR5; EGP-2; EGP314; EGP40; ESA; HNPCC8; KS1/4; KSA; M4S1; MIC18; MK-1; TACSTD1; TROP1

Inactivation of MSH2 through deletions at the 3’ end of the EPCAM gene are known to cause autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer, or HNPCC) (MedGen UID: 40399; PMID: 23938213, 23264089, 19455606). EPCAM is also associated with autosomal recessive congenital tufting enteropathy (CTE) (MedGen UID: 413031; PMID: 18572020, 21315192).

Synonym(s): XPF

The ERCC4 gene is associated with autosomal recessive Fanconi anemia, type Q (MedGen UID: 815318), xeroderma pigmentosa (MedGen UID: 120612), and Cockayne syndrome (MedGen UID: 40363).

Synonym(s): ENX-1; ENX1; EZH1; EZH2b; KMT6; KMT6A; WVS; WVS2

The EZH2 gene is associated with autosomal dominant Weaver syndrome (MedGen UID: 120511).

F
Synonym(s): CCDC98

The FAM175A gene has preliminary evidence supporting a correlation with breast cancer.

Synonym(s): FACA; FANCH

The FANCA gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 483333).

The FANCB gene is associated with X-linked Fanconi anemia (MedGen UID: 336901).

Synonym(s): FACC

The FANCC gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 483324). Additionally, there is preliminary evidence that the FANCC gene is associated with an increased risk for autosomal dominant breast and pancreatic cancer in individuals who carry a single pathogenic FANCC variant.

Synonym(s): FACD; FANCD

The FANCD2 gene is associated with autosomal recessive Fanconi anemia, type D2 (MedGen UID: 463627).

Synonym(s): FACE

The FANCE gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 463628).

The FANCF gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 448251).

Synonym(s): XRCC9

The FANCG gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 433393).

Synonym(s): KIAA1794

The FANCI gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 323016).

Synonym(s): PHF9

The FANCL gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 433302).

Synonym(s): KIAA1596

The FANCM gene is associated with autosomal recessive Fanconi anemia, type M (MedGen UID: 431730).

FH
Synonym(s): MCL; LRCC; HLRCC; MCUL1; FMRD

The FH gene is associated with autosomal dominant hereditary leiomyomatosis and renal cell cancer (HLRCC) (MedGen UID: 353771) and autosomal recessive fumarate hydratase deficiency (FHD) (MedGen UID: 87458). Additionally, the FH gene has preliminary evidence supporting a correlation with autosomal dominant hereditary paraganglioma-pheochromocytoma (PMID: 24334767, 25004247).

The FLCN gene is associated with autosomal dominant Birt-Hogg-Dubé (BHD) syndrome (MedGen UID: 91070). Additionally, the FLCN gene has preliminary evidence supporting a correlation with colon cancer.

G

The GALNT12 gene has preliminary evidence supporting a correlation with colorectal cancer (MedGen UID: 324734).

Synonym(s): GF1

The GATA1 gene is associated with X-linked GATA1-related cytopenia (MedGen UID: 335283) and X-linked Diamond-Blackfan anemia (MedGen UID: 266045).

Synonym(s): DCML; IMD21; MONOMAC; NFE1B

The GATA2 gene is associated with autosomal dominant GATA2 deficiency (MedGen UID: 481660), including Emberger syndrome (MedGen UID: 481294).

Synonym(s): DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS; SGBS1

The GPC3 gene is associated with X-linked recessive Simpson-Golabi-Behmel syndrome (MedGen UID: 162917).

Synonym(s): CKTSF1B1; CRAC1

The GREM1 gene is associated with autosomal dominant hereditary mixed polyposis syndrome (HMPS) in individuals who carry a duplication spanning the 3’ end of the adjacent SCG5 gene and a region upstream of the GREM1 locus (MedGen UID: 430218, PMID: 22561515).

H

The HOXB13 gene is associated with an increased risk for autosomal dominant prostate cancer. The HOXB13 c.251G>A (p.Gly84Glu) variant is observed more frequently in males with prostate cancer compared to healthy controls (PMID: 22236224, 23064873, 26517352, 26108461, 25629170, 25595936, 24026887).

Synonym(s): C-BAS/HAS; C-H-RAS; C-HA-RAS1; CTLO; H-RASIDX; HAMSV; HRAS1; p21ras; RASH1

The HRAS gene is associated with autosomal dominant Costello syndrome (MedGen UID: 108454). Other HRAS-related conditions have been reported (OMIM).

I
J
K
Synonym(s): CMT2A; CMT2

The KIF1B gene has preliminary evidence supporting a correlation with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes (MedGen UID: 313270).

KIT
Synonym(s): PBT

The KIT gene is associated with autosomal dominant gastrointestinal stromal tumors (GIST) (MedGen UID: 116049).

Synonym(s): C-K-RAS; CFC2; K-RAS2A; K-RAS2B; K-RAS4A; K-RAS4B; KI-RAS; KRAS1; KRAS2; NS; NS3; RALD; RASK2; c-Ki-ras2

The KRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 349931) and cardiofaciocutaneous (CFC) syndrome (MedGen UID: 501102). Other KRAS-related conditions have been reported (OMIM).

L
M
MAX
Synonym(s): bHLHd4

The MAX gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 313270).

The MC1R gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant cutaneous malignant melanoma (MedGen UID: 416516).

The MDM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with susceptibility to accelerated tumor formation (MedGen UID: 482320).

Synonym(s): MEAI; SCG2

The MEN1 gene is associated with autosomal dominant multiple endocrine neoplasia type 1 (MEN1) syndrome (MedGen UID: 9957) and familial isolated hyperparathyroidism (FIHP) (OMIM: 145000).

MET

The MET gene is associated with autosomal dominant hereditary papillary renal cell carcinoma (HPRCC) (MedGen UID: 766).

Synonym(s): WS2A; WS2

The MITF gene is associated with an increased risk for autosomal dominant cutaneous malignant melanoma (MedGen UID: 463554).

Synonym(s): COCA2; HNPCC; HNPCC2; FCC2; hMLH1

The MLH1 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 232603) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

The MLH3 gene has preliminary evidence supporting a correlation with autosomal dominant Lynch syndrome.

Synonym(s): MRE11; MRE11B; ATLD; HNGS1

The MRE11A gene is associated with autosomal recessive ataxia-telangiectasia-like disorder (ATLD) (MedGen UID: 348929). There is preliminary evidence suggesting a phenotypic overlap between ATLD and autosomal recessive Joubert syndrome (PMID: 22863007). Additionally, the MRE11A gene has preliminary evidence supporting a correlation with autosomal dominant breast cancer in individuals who carry a single pathogenic MRE11A variant (PMID: 14684699, 24894818).

Synonym(s): FCC1; COCA1; HNPCC; LCFS2; HNPCC1

The MSH2 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 423615) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

Synonym(s): GTBP; GTMBP; HNPCC5; p160; HSAP

The MSH6 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 318886) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

Synonym(s): MYH

The MUTYH gene is associated with autosomal recessive MUTYH-associated polyposis (MAP) (MedGen UID: 332993). Additionally, evidence of varying degrees suggests a possible association between the MUTYH gene and several cancer types.

N
NBN
Synonym(s): NBS1; NBS; P95; AT-V1; AT-V2; ATV

The NBN gene is associated with an increased risk for autosomal dominant breast cancer in individuals who carry a single pathogenic NBN variant (PMID: 21514219, 16770759). Additionally, the NBN gene is associated with autosomal recessive Nijmegen breakage syndrome (NBS) (MedGen UID: 140771).

NF1
Synonym(s): NFNS; VRNF; WSS

The NF1 gene is associated with autosomal dominant neurofibromatosis type 1 (NF1) (MedGen UID: 18013). Additionally, evidence of varying degrees suggests a possible association between the NF1 gene and several cancer types (PMID: 23257896, 23165953, 25130111, 20833335).

NF2
Synonym(s): merlin; ACN; SCH; BANF

The NF2 gene is associated with autosomal dominant neurofibromatosis type 2 (NF2) (MedGen UID: 18014).

Synonym(s): NOLA2

The NHP2 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 462791).

Synonym(s): NOLA3

The NOP10 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 341705).

O
P

The PALB2 gene is associated with an increased risk for autosomal dominant breast and pancreatic cancer, and possibly ovarian cancer, in individuals who carry a single pathogenic PALB2 variant (PMID: 25099575, 17200668, 18628482). Additionally, the PALB2 gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 372133).

The PALLD gene has preliminary evidence supporting a correlation with pancreatic cancer (MedGen UID: 339739, OMIM: 606856).

The PDGFRA gene is associated with autosomal dominant gastrointestinal stromal tumors (GIST) (MedGen UID: 116049).

Synonym(s): NBLST2; NBPhox; PMX2B

The PHOX2B gene is associated with autosomal dominant congenital central hypoventilation syndrome (CCHS) (MedGen UID: 347052).

Synonym(s): CLOVE; CWS5; MCAP; MCM; MCMTC; PI3K; PI3K-alpha; p110-alpha

The PIK3CA gene has preliminary evidence supporting a correlation with autosomal dominant Cowden syndrome and Cowden-like syndrome (PMID: 23246288, 22729224, 24497998). The PIK3CA gene is associated with rare conditions where the pathogenic variant is constitutionally mosaic and not inherited (MedGen UID: 442876, 355421).

Synonym(s): HNPCC4; PMS2CL; PMSL2; MLH4

The PMS2 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 325005) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

Synonym(s): POLD

The POLD1 gene is associated with an increased risk for autosomal dominant colonic adenomatous polyps and colon cancer (PMID: 24509466), and autosomal dominant mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome (MedGen UID: 811623).

The POLE gene is associated with an increased risk for autosomal dominant colonic adenomatous polyps and colon cancer (PMID: 23263490, 26133394, 23585368, 24501277, 24788313). Additionally, the POLE gene has preliminary evidence supporting a correlation with autosomal recessive facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) syndrome (PMID: 23230001, 25948378).

The POT1 gene is associated with autosomal dominant cutaneous melanoma (PMID: 24686846, 24686849, 26337759). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant glioma (PMID: 25482530, 25524796, 26634384) and cardiac angiosarcoma (PMID: 26403419).

Synonym(s): TSE1; Tissue-Specific Extinguisher 1; PKR1; CAR; CNC1; PPNAD1; ACRDYS1; ADOHR; CNC; CAMP-Dependent Protein Kinase; Regulatory Subunit Rialpha; CAMP-Dependent Protein Kinase Type I-Alpha Regulatory Chain; CAMP-Dependent Protein Kinase Type I-Alpha Regulatory Subunit; Protein Kinase A Type 1a Regulatory Subunit; PRKAR1

The PRKAR1A gene is associated with autosomal dominant Carney complex (CNC) (MedGen UID: 388559).

Synonym(s): TRP1; TRY1; TRY4; TRYP1

The PRSS1 gene is associated with autosomal dominant hereditary pancreatitis (Medgen UID: 116056).

Synonym(s): BCNS; HPE7; NBCCS; PTC; PTC1; PTCH; PTCH11

The PTCH1 gene is associated with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome (MedGen UID: 2554). Additionally, the PTCH1 gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (HPE) (MedGen: 372134).

The PTCH2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS) (MedGen UID: 2554).

Synonym(s): 10q23del; BZS; CWS1; DEC; GLM2; MHAM; MMAC1; PTEN1; TEP1

The PTEN gene is associated with autosomal dominant PTEN hamartoma tumor syndrome (PHTS) including the clinical subtypes of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome (MedGen UID: 368366).

Q
R

The RAD50 gene is associated with an increased risk for autosomal dominant breast, ovarian, and possibly other cancers in individuals who carry a single pathogenic variant. Additionally, the RAD50 gene has preliminary evidence supporting a correlation with autosomal recessive Nijmegen breakage syndrome-like disorder (NBSLD) (MedGen UID: 442700).

The RAD51C gene is associated with an increased risk for autosomal dominant ovarian cancer and possibly breast cancer in individuals who carry a single pathogenic RAD51C variant (PMID: 20400964, 22451500, 22725699, 21616938). Additionally, the RAD51C gene has preliminary evidence supporting a correlation with autosomal recessive Fanconi anemia (PMID: 20400963).

Synonym(s): RAD51L3

The RAD51D gene is associated with an increased risk for autosomal dominant ovarian cancer and possibly breast cancer in individuals who carry a single pathogenic RAD51D variant (PMID: 21822267, 25445424).

RB1
Synonym(s): OSRC; p105-Rb; pp110; PPP1R130; pRb; RB

The RB1 gene is associated with autosomal dominant retinoblastoma (MedGen UID: 20552). Additionally, evidence of varying degrees suggests a possible association between the RB1 gene and several cancer types in retinoblastoma survivors (PMID: 14996857, 22355046).

Synonym(s): RECQ4

The RECQL4 gene is associated with autosomal recessive Rothmund-Thomson syndrome (MedGen UID: 10819), RAPADILINO syndrome (MedGen UID: 336602), and Baller-Gerold syndrome (MedGen UID: 120532).

RET
Synonym(s): CDHF12; CDHR16; HSCR1; MEN2A; MEN2B; MTC1; PTC; RET-ELE1; RET51

The RET gene is associated with autosomal dominant multiple endocrine neoplasia type 2 (MEN2) syndrome (MedGen UID: 9958) and nonsyndromic Hirschsprung disease (MedGen UID: 419188).

The RINT1 gene has preliminary evidence supporting a correlation with breast cancer.

The RPL11 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 436451).

The RPL26 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 766956).

The RPL35A gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 382705).

The RPL5 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 75558).

The RPS10 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 412874).

The RPS19 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 266045).

The RPS24 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 387892).

The RPS26 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 412873).

The RPS7 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 390817).

Synonym(s): AML1; AML1-EVI-1; AMLCR1; CBF2alpha; CBFA2; EVI-1; PEBP2aB; PEBP2alpha

The RUNX1 gene is associated with autosomal dominant familial platelet disorder with associated myeloid malignancy (MedGen UID: 321945).

S
Synonym(s): CMD1GG; FP; PGL5; SDH1; SDH2; SDHF

The SDHA gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 481622), gastrointestinal stromal tumors (GIST) (PMID: 21505157, 22974104, 23060355), and autosomal recessive mitochondrial complex II deficiency with or without cardiomyopathy (MedGen UID: 344401).

Synonym(s): C11orf79; PGL2; SDH5

The SDHAF2 gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 357076).

Synonym(s): PGL4; SDH; SDH1; SDH2; CWS2; IP; SDHIP

The SDHB gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 349380), gastrointestinal stromal tumors (GIST) (MedGen UID: 116049), and renal cancer (PMID: 18728283). Other SDHB-related conditions have been reported (OMIM: 185470).

Synonym(s): CYB560; CYBL; PGL3; QPS1; SDH3

The SDHC gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 340200), gastrointestinal stromal tumors (GIST) (MedGen UID: 116049), and renal cell carcinoma (PMID: 23083876).

Synonym(s): PGL; PGL1; SDH4; CBT1; CII-4; CWS3; QPs3; cybS

The SDHD gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 358258) and gastrointestinal stromal tumors (GIST) (PMID: 24886695). Other SDHD-related conditions have been reported (OMIM: 602690).

Synonym(s): BTBD12

The SLX4 gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 450103).

Synonym(s): DPC4; JIP; MADH4; MYHRS

The SMAD4 gene is associated with autosomal dominant juvenile polyposis syndrome (JPS) (MedGen UID: 87518) and hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 331400).

Synonym(s): BAF190; BAF190A; BRG1; CSS4; MRD16; RTPS2; SNF2; SNF2L4; SNF2LB; SWI2; hSNF2b

The SMARCA4 gene is associated with an increased risk of autosomal dominant small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) (PMID: 24658002, 24658001). Additionally, the SMARCA4 gene has preliminary evidence supporting a correlation with autosomal dominant rhabdoid tumor predisposition syndrome type 2 (RTPS2) (MedGen UID: 413749).

Synonym(s): BAF47; CSS3; INI1; MRD15; PPP1R144; RDT; RTPS1; SNF5; SNF5L1; SWNTS1; Sfh1p; Snr1; hSNFS

The SMARCB1 gene is associated with autosomal dominant rhabdoid tumor predisposition syndrome 1 (RTPS1) (MedGen UID: 322892) and schwannomatosis (MedGen UID: 234775).

Synonym(s): BAF57; CSS5

The SMARCE1 gene is associated with autosomal dominant familial meningioma (MedGen UID: 232281), and there is preliminary evidence supporting a correlation with autosomal dominant Coffin-Siris syndrome (PMID: 22426308, 23906836).

Synonym(s): PCTT; PSTI; Spink3; TATI; TCP

The SPINK1 gene is associated with autosomal dominant predisposition to hereditary pancreatitis (MedGen UID: 116056).

Synonym(s): NFLS; PPP1R147; hSpred1; spred-1

The SPRED1 gene is associated with autosomal dominant Legius syndrome (MedGen UID: 370709).

Synonym(s): hLKB1; LKB1; PJS

The STK11 gene is associated with autosomal dominant Peutz-Jeghers syndrome (PJS) (MedGen UID: 18404).

Synonym(s): PRO1280; SUFUH; SUFUXL

The SUFU gene is associated with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS) (MedGen UID: 2554), and medulloblastoma (MedGen UID: 7517). Additionally, there is preliminary evidence supporting a correlation with susceptibility to meningioma (MedGen UID: 232281).

T
Synonym(s): DKCA1; hTR; PFBMFT2; SCARNA19; TR; TRC3

The TERC gene is associated with autosomal dominant dyskeratosis congenita (MedGen UID: 338831).

Synonym(s): CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT; PFBMFT1; TCS1; TP2; TRT

The TERT gene is associated with both autosomal recessive and autosomal dominant dyskeratosis congenita (MedGen UID: 462793), and autosomal dominant idiopathic pulmonary fibrosis (IPF) (MedGen UID: 321462).

The TINF2 gene is associated with autosomal dominant dyskeratosis congenita (MedGen UID: 462795).

The TMEM127 gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 18419).

Synonym(s): p53; tumor protein p53; BCC7; LFS1; TRP53

The TP53 gene is associated with autosomal dominant Li-Fraumeni syndrome (LFS) (MedGen UID: 322656).

Synonym(s): LAM; TSC

The TSC1 gene is associated with autosomal dominant tuberous sclerosis complex (TSC) (MedGen UID: 344288).

Synonym(s): LAM; PPP1R160; TSC4

The TSC2 gene is associated with autosomal dominant tuberous sclerosis complex (TSC) (MedGen UID: 348170).

U
V
VHL
Synonym(s): HRCA1; pVHL; RCA1; VHL1

The VHL gene is associated with autosomal dominant von Hippel-Lindau (VHL) syndrome (MedGen UID: 42458), and autosomal recessive familial erythrocytosis, type 2 (MedGen UID: 332974).

W
WRN
Synonym(s): RECQ3; RECQL2; RECQL3

The WRN gene is associated with autosomal recessive Werner syndrome (MedGen UID: 12147).

WT1
Synonym(s): GUD; AWT1; WAGR; WIT-2; NPHS4; EWS-WT1; WT33

The WT1 gene is associated with autosomal dominant Denys-Drash syndrome (MedGen UID: 181980), Wilms tumor (MedGen UID: 447509), WAGR syndrome (MedGen UID: 799414), and Frasier syndrome (MedGen UID: 215533).

X

The XRCC2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant susceptibility to breast cancer and autosomal recessive Fanconi anemia.

Y
Z