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.

Cross-Cancer Panels
84 genes

Invitae Multi-Cancer Panel

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Genetic testing for 84 genes associated with hereditary cancers across eight major organ systems: breast and gynecologic, gastrointestinal, endocrine, genitourinary, skin, brain/nervous system, sarcoma and hematologic.

47 genes

Invitae Common Hereditary Cancers Panel

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Genetic testing for 47 genes that are associated with hereditary breast, ovarian, uterine, colorectal, gastric, prostate, melanoma, and pancreatic cancers.

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.

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.

Breast Cancer
up to 28 genes

Invitae Breast Cancer Panel

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Genetic testing for up to 28 genes associated with an increased lifetime risk of developing breast cancer, as well as other cancer types.

up to 12 genes

Invitae Breast Cancer Guidelines-Based Panel

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Genetic testing for eleven established genes associated with an increased risk of breast cancer and have medical management guidelines. BARD1 is available as an add-on gene based on emerging data.

Breast and Gynecologic Cancer
up to 37 genes

Invitae Breast and Gyn Cancers Panel

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Genetic testing for up to 37 genes associated with hereditary breast, ovarian and uterine cancers.

up to 20 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 and have medical management guidelines. BARD1 is available as an add-on gene based on emerging data.

Colorectal Cancer
up to 30 genes

Invitae Colorectal Cancer Panel

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Genetic testing for up to 30 genes associated with inherited colorectal cancer. Some genes are also associated with an increased risk for extracolonic cancers (e.g., ovarian, endometrial, thyroid).

up to 20 genes

Invitae Colorectal Cancer Guidelines-Based Panel

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Genetic testing for 19 genes that are defined by medical guidelines as conferring specifically actionable risk of developing colorectal and other cancers. RPS20 is available as an add-on gene based on emerging data.

Additional Organ Systems
up to 29 genes

Invitae Pancreatic Cancer Panel

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Genetic testing for up to 29 genes that are associated with hereditary pancreatic cancer, including exocrine tumors and pancreatic neuroendocrine tumors (PanNET).

7 genes

Invitae Hyperparathyroidism Panel

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Genetic testing for 7 genes associated with hereditary hyperparathyroidism (HPT) and parathyroid tumors/cancer.

up to 32 genes

Invitae Renal/Urinary Tract Cancers Panel

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Genetic testing for up to 32 genes associated with hereditary renal/urinary tract cancers, including cancer of the kidneys, renal pelvis, ureters, bladder and urethra.

up to 19 genes

Invitae Prostate Cancer Panel

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Genetic testing for up to 19 genes associated with an increased lifetime risk of developing prostate cancer as well as other cancer types.

up to 47 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.

up to 42 genes

Invitae Nervous System/Brain Cancer Panel

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Genetic testing for up to 34 genes associated with hereditary cancers and tumors of the brain and central and peripheral nervous systems.

up to 44 genes

Invitae Sarcoma Panel

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Genetic testing for up to 44 genes that are associated with a hereditary predisposition to the development of sarcomas.

19 genes

Invitae Gastric Cancer Panel

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

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).

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.

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.

53 genes

Invitae Pediatric Solid Tumors Panel

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Genetic testing for 53 genes associated with a hereditary predisposition to the development of pediatric solid tumors.

up to 34 genes

Invitae Pediatric Nervous System/Brain Tumors Panel

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Genetic testing for up to 34 genes associated with a hereditary predisposition to developing pediatric brain and central nervous system tumors.

16 genes

Invitae Pediatric Hematologic Malignancies Panel

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

up to 2 genes

Invitae Hereditary Diffuse Gastric Cancer Syndrome Test

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Genetic testing for hereditary diffuse gastric cancer syndrome (HDGC), is also associated with an increased risk of gastric and lobular breast cancer.

up to 7 genes

Invitae Wilms Tumor Panel

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Genetic testing for up to 7 genes associated with both isolated and syndromic causes of Wilms tumor: Denys-Drash syndrome (DDS), WAGR, Frasier syndrome, Beckwith-Wiedemann syndrome, and CDC73-related conditions.

6 genes

Invitae Chronic Pancreatitis Panel

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Genetic testing of 6 genes associated with chronic pancreatitis, characterized by persistent pancreatic inflammation, pain, maldigestion and diabetes mellitus.

3 genes

Invitae Schwannomatosis Panel

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Genetic testing for the LZTR1, NF2 and SMARCB1 genes, associated with hereditary predisposition to schwannomatosis.

1 gene

Invitae Familial Isolated Pituitary Adenomas Test

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Genetic testing for the AIP gene, which is associated with autosomal dominant familial isolated pituitary adenoma (FIPA).

1 gene

Invitae Ataxia-Telangiectasia Test

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

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.

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.

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.

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.

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.

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).

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).

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).

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.

1 gene

Invitae DICER1 Syndrome Test

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

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.

1 gene

Invitae Familial Adenomatous Polyposis Test

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Genetic testing for APC which can cause familial adenomatous polyposis (FAP), attenuated FAP (AFAP), and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS).

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).

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.

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.

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.

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.

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).

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.

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.

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).

1 gene

Invitae Li-Fraumeni Syndrome Test

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

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.

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).

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).

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).

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).

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.

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.

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.

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.

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.

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.

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.

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.

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.

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).

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.

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).

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.

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).

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.

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.

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.

Gene
A
ABRAXAS1

The ABRAXAS1 gene, formerly known as FAM175A, currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant susceptibility to breast cancer (PMID: 22357538).

ACD

The ACD gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant and recessive dyskeratosis congenita (DC), bone marrow failure and lymphoid cancer (PMID: 25233904, 25205116, 27528712).

AIP

The AIP gene is associated with predisposition to autosomal dominant familial isolated pituitary adenoma (FIPA) (PMID: 25019383, 19794292).

AKT1

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

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

AP2S1

The AP2S1 gene is associated with autosomal dominant familial hypocalciuric hypercalcemia type 3 (FHH3) (MedGen UID: 322173).

APC

The APC gene is associated with autosomal dominant familial adenomatous polyposis (FAP) (MedGen UID: 398651), attenuated FAP (AFAP) (MedGen UID: 436213), and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) (PMID: 27087319).

ATM

The ATM gene is associated with autosomal dominant predisposition to breast, pancreatic (PMID: 26483394) and prostate cancers (PMID: 16998505, 15928302, 26662178, 26483394, 27324988) and autosomal recessive ataxia-telangiectasia (A-T) (MedGen UID: 439). Additionally, there is preliminary evidence suggesting ATM is associated with autosomal dominant predisposition to other cancer types including stomach, bladder and colon; although available evidence is insufficient to make a determination regarding these relationships (PMID: 26098866, 26662178, 15928302, 29348823, 15928302).

ATR

The ATR gene is associated with autosomal recessive Seckel syndrome 1 (MedGen UID: 830512). Additionally, there is preliminary evidence that ATR is associated with autosomal dominant predisposition to prostate (PMID: 27433846) and oropharyngeal cancer (PMID: 22341969).

AXIN2

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

B
BAP1

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

BARD1

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

BLM

The BLM gene is associated with autosomal recessive Bloom syndrome (MedGen UID: 2685).

BMPR1A

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

BRCA1

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

BRCA2

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).

BRIP1

The BRIP1 gene is associated with an increased risk for autosomal dominant ovarian cancer and possibly breast cancer in individuals who carry a single pathogenic BRIP1 variant (PMID: 17033622, 21964575, 26315354). Additionally, the BRIP1 gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 323015).

BUB1B

The BUB1B gene is associated with autosomal recessive mosaic variegated aneuploidy (MVA) syndrome (MedGen UID: 338026).

C
CASR

The CASR gene is associated with a spectrum of disorders including autosomal dominant familial hypocalciuric hypercalcemia (FHH) (MedGen UID: 369200), autosomal dominant hypocalcemia (ADH) (MedGen UID: 87438), ADH with Bartter syndrome (MedGen UID: 811594), autosomal recessive neonatal severe hyperparathyroidism (NSHPT) (MedGen UID: 331326), and possibly an increased risk for familial isolated hyperparathyroidism (FIHP) (PMID: 14985373, 21521328). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 18756473) and chronic pancreatitis (PMID: 14641934, 16497624).

CDC73

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.

CDH1

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).

CDK4

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

CDKN1B

The CDKN1B gene is associated with autosomal dominant multiple endocrine neoplasia type 4 (MEN4) (MedGen UID: 373469).

CDKN1C

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).

CDKN2A

The CDKN2A gene is associated with autosomal dominant hereditary melanoma-pancreatic cancer syndrome (MedGen UID: 325450) (OMIM: 600160).

CEBPA

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

CEP57

The CEP57 gene is associated with autosomal recessive mosaic variegated aneuploidy (MVA) syndrome (MedGen UID: 481473).

CFTR

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

CHEK2

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

CPA1

The CPA1 gene is associated with autosomal dominant hereditary pancreatitis (PMID: 28258133, 23955596).

CTC1

The CTC1 gene is associated with autosomal recessive cerebroretinal microangiopathy with calcifications and cysts type 1 (CRMCC1), also known as Coats plus syndrome (MedGen UID: 1636142).

CTNNA1

The CTNNA1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hereditary diffuse gastric cancer (PMID: 23208944, 26182300).

CTR9

The CTR9 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to Wilms tumor (PMID: 25099282, 29292210).

CTRC

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

D
DICER1

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

DIS3L2

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).

DKC1

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

E
EGFR

The EGFR gene is associated with autosomal dominant predisposition to lung cancer (PMID: 16258541, 24736066, 24736080, 21252721, 23380224, 25176975, 18355544, 23358982).

EGLN1

The EGLN1 gene is associated with autosomal dominant familial erythrocytosis (MedGen UID: 377868).

ENG

The ENG gene is associated with autosomal dominant hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 52657) and hereditary pulmonary arterial hypertension (PAH) (MedGen UID: 57749).

EPCAM

Deletions including exon 9 of the EPCAM gene are known to cause autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer, or HNPCC) (MedGen UID: 412966). EPCAM is also associated with autosomal recessive congenital tufting enteropathy (CTE) (MedGen UID: 413031).

ERBB2

The ERBB2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to lung cancer (PMID: 24317180).

ERCC4

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

EXT1

The EXT1 gene is associated with autosomal dominant hereditary multiple osteochondromas (HMO) (MedGen UID: 4612), previously called hereditary multiple exostoses.

EXT2

The EXT2 gene is associated with autosomal dominant hereditary multiple osteochondromas (HMO) (MedGen UID: 377018), previously called hereditary multiple exostoses.

EZH2

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

F
FANCA

The FANCA gene is associated with autosomal recessive Fanconi anemia type A (FA-A) (MedGen UID: 483333). Additionally, there is preliminary evidence that FANCA is associated with autosomal dominant predisposition to prostate cancer; however, the available evidence is insufficient to make a determination regarding this relationship (PMID: 28864460, 27701467, 26181256).

FANCB

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

FANCC

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 (PMID: 23028338, 12750283, 15695377).

FANCD2

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

FANCE

The FANCE gene is associated with autosomal recessive Fanconi anemia, type E (FA-E) (MedGen UID: 463628).

FANCF

The FANCF gene is associated with autosomal recessive Fanconi anemia, type F (FA-F) (MedGen UID: 448251).

FANCG

The FANCG gene is associated with autosomal recessive Fanconi anemia, type G (FA-G) (MedGen UID: 433393).

FANCI

The FANCI gene is associated with autosomal recessive Fanconi anemia, type I (FA-I) (MedGen UID: 323016).

FANCL

The FANCL gene is associated with autosomal recessive Fanconi anemia, type L (FA-L) (MedGen UID: 433302).

FANCM

The FANCM gene is associated with an autosomal recessive condition characterized by an increased risk for malignancy and infertility (PMID: 30075111, 29231814, 28837162, 29895858, 28837157). Additionally, there is preliminary evidence that FANCM is associated with autosomal dominant predisposition to breast cancer (PMID: 23409019, 25288723) and autosomal recessive Fanconi anemia (PMID: 16116422, 19423727, 21681190).

FH

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, FH has preliminary evidence supporting a correlation with autosomal dominant hereditary paraganglioma-pheochromocytoma (PMID: 24334767, 25004247). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

FLCN

The FLCN gene is associated with autosomal dominant Birt-Hogg-Dubé (BHD) syndrome (MedGen UID: 91070).

G
GALNT12

The GALNT12 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to colorectal cancer (MedGen UID: 324734, PMID: 19617566).

GATA1

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

GATA2

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

GEN1

The GEN1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to prostate cancer (PMID: 27433846).

GNA11

The GNA11 gene is associated with autosomal dominant hypocalcemia (ADH) (MedGen UID: 815573) and familial hypocalciuric hypercalcemia (FHH) (MedGen UID: 615361).

GPC3

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

GREM1

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
HOXB13

The HOXB13 gene is associated with autosomal dominant predisposition to prostate cancer (PMID: 22236224, 23064873, 26517352, 26108461, 25629170, 25595936, 24026887).

HRAS

The HRAS gene is associated with autosomal dominant Costello syndrome (MedGen UID: 108454). Other HRAS-related conditions have been described (OMIM: 163200, 218040).

I
J
K
KIF1B

The KIF1B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant susceptibility to hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndrome (PMID: 24694336) and neuroblastoma (PMID: 18614535, 18334619, 24469107).

KIT

The KIT gene is associated with autosomal dominant Piebaldism (MedGen UID: 36361), gastrointestinal stromal tumors (GISTs) (MedGen UID: 116049) and familial mastocytosis (MedGen UID: 9902).

L
LZTR1

The LZTR1 gene is associated with autosomal dominant schwannomatosis (MedGen UID: 816613). In addition, LZTR1 is associated with autosomal dominant and autosomal recessive Noonan syndrome (MedGen UID: 902892, OMIM: 605275).

M
MAX

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

MC1R

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).

MDM2

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).

MEN1

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).

MITF

The c.952G>A, p.Glu318Lys variant in the MITF gene is associated with autosomal dominant susceptibility to cutaneous malignant melanoma (MedGen UID: 463554). Other pathogenic variants in the MITF gene are associated with autosomal dominant Waardenburg syndrome (MedGen UID: 349786) and Tietz albinism-deafness syndrome (MedGen UID: 98213) but are not analyzed by this assay.

MLH1

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).

MLH3

The MLH3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Lynch syndrome (PMID: 11586295, 12702580).

MRE11

The MRE11 gene, formerly known as MRE11A, 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 MRE11 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to breast cancer (PMID: 14684699, 24894818).

MSH2

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).

MSH3

The MSH3 gene is associated with autosomal recessive MSH3-associated polyposis (MedGen UID: 934686).

MSH6

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).

MUTYH

The MUTYH gene is associated with autosomal recessive MUTYH-associated polyposis (MAP) (MedGen UID: 332993).

N
NBN

The NBN gene is associated with autosomal dominant predisposition to breast cancer and possibly ovarian, endometrial, and prostate cancer (PMID: 31406321, 26720728, 30733081, 29988077, 30730552, 23149842, 31322208). In addition, NBN is associated with autosomal recessive Nijmegen breakage syndrome (NBS) (MedGen UID: 140771).

NF1

The NF1 gene is associated with autosomal dominant neurofibromatosis type 1 (NF1) (MedGen UID: 18013), neurofibromatosis-Noonan syndrome (NFNS) (MedGen UID: 419089), and Watson syndrome (MedGen UID: 107817).

NF2

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

NHP2

The NHP2 gene is associated with autosomal recessive NHP2-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462791).

NOP10

The NOP10 gene is associated with NOP10-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 341705).

NTHL1

The NTHL1 gene is associated with autosomal recessive NTHL1-associated polyposis (MedGen UID: 902388).

O
P
PALB2

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).

PALLD

The PALLD gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with pancreatic cancer (MedGen UID: 339739, OMIM: 606856).

PARN

The PARN gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 905452), and autosomal dominant telomere-related pulmonary fibrosis (PMID: 25848748).

PDGFRA

The PDGFRA gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant gastrointestinal stromal tumors (GIST) (MedGen UID: 116049).

PHOX2B

The PHOX2B gene is associated with autosomal dominant congenital central hypoventilation syndrome (CCHS) (MedGen UID: 347052). Most cases of CCHS are due to a polyalanine repeat expansion, which is not analyzed by this test.

PIK3CA

The PIK3CA gene is associated with PROS (PIK3CA-related overgrowth syndrome), a spectrum of overgrowth conditions where the pathogenic variant is constitutionally mosaic and not inherited (MedGen UID: 851807). There is also preliminary evidence supporting a correlation with PIK3CA and autosomal dominant Cowden syndrome and Cowden-like syndrome (PMID: 23246288, 22729224, 24497998).

PMS2

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).

POLD1

The POLD1 gene is associated with autosomal dominant predisposition to colonic adenomatous polyps and colon cancer (PMID: 24509466) and autosomal dominant MDPL syndrome (mandibular hypoplasia, deafness, progeroid features, and lipodystrophy) (MedGen UID: 811623). There is also preliminary evidence supporting a correlation with autosomal recessive combined immunodeficiency syndrome (PMID: 31629014). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

POLE

The POLE gene is associated with an autosomal dominant predisposition to colonic adenomatous polyps and colon cancer (PMID: 23263490, 26133394, 23585368, 24501277, 24788313) and autosomal recessive FILS syndrome (facial dysmorphism, immunodeficiency, livedo, and short stature) (MedGen UID: 767490).

POT1

The POT1 gene is associated with autosomal dominant cutaneous melanoma (PMID: 24686846, 24686849, 26337759).

PRKAR1A

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

PRSS1

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

PTCH1

The PTCH1 gene is associated with autosomal dominant basal cell nevus syndrome (BCNS), 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).

PTCH2

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

PTEN

The PTEN gene is associated with autosomal dominant PTEN hamartoma tumor syndrome (PHTS) including the clinical subtypes of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and PTEN-related autism spectrum disorder (MedGen UID: 368366). Other PTEN-associated conditions have been described (PMID: 11755638, 17392703, 27890237).

Q
R
RAD50

The RAD50 gene is associated with autosomal dominant predisposition to breast cancer (PMID: 14684699, 16474176, 24894818) and autosomal recessive Nijmegen breakage syndrome-like disorder (NBSLD) (PMID: 19409520).

RAD51C

The RAD51C gene is associated with autosomal dominant susceptibility to ovarian cancer and possibly breast cancer (PMID: 20400964, 22451500, 22725699, 21616938).

RAD51D

The RAD51D gene is associated with an increased risk for autosomal dominant ovarian cancer and possibly breast cancer (PMID: 21822267, 25445424).

RB1

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).

RECQL

The RECQL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to breast cancer (PMID: 25915596, 27832498, 25945795).

RECQL4

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).

REST

The REST gene is associated with autosomal dominant predisposition to Wilms tumor (PMID: 26551668, 9771705).

RET

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).

RINT1

The RINT1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with breast cancer (PMID: 25050558).

RNF43

The RNF43 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to colorectal cancer (PMID: 27329244, 24512911, 27081527).

RPL11

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

RPL15

The RPL15 gene is associated with autosomal dominant Diamond-Blackfan anemia (PMID: 29599205, 23812780, 25042156).

RPL19

The RPL19 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Diamond-Blackfan anemia (PMID: 30503522, 22431104).

RPL26

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

RPL35A

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

RPL5

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

RPS10

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

RPS19

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

RPS20

The RPS20 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hereditary nonpolyposis colorectal cancer (HNPCC) (PMID: 24941021).

RPS24

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

RPS26

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

RPS29

The RPS29 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Diamond-Blackfan anemia (PMID: 24829207).

RPS7

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

RTEL1

The RTEL1 gene is associated with autosomal dominant and autosomal recessive dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 901644).

RUNX1

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

S
SDHA

The SDHA gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (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). Studies suggest SDHA may also be associated with autosomal dominant susceptibility to renal cancer (PMID: 26722403, 25034258). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

SDHAF2

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

SDHB

The SDHB gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 349380), gastrointestinal stromal tumors (GIST) (MedGen UID: 116049), renal cancer (PMID: 18728283) and autosomal recessive mitochondrial complex II deficiency with or without cardiomyopathy (MedGen UID: 344401). Studies suggest SDHB may also be associated with autosomal dominant predisposition to breast (PMID: 21979946) and thyroid cancer (PMID: 19802898, 24096523, 25694510). The data, however, are preliminary and insufficient to make a determination regarding these relationships.

SDHC

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).

SDHD

The SDHD gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 358258) and gastrointestinal stromal tumors (GIST) (PMID: 24886695). Studies suggest SDHD may also cause autosomal dominant predisposition to breast (PMID: 21979946, 25694510), thyroid (PMID: 19802898, 25694510, 15328326) and renal cancer (PMID: 15328326, 23083876) in addition to autosomal recessive mitochondrial complex II deficiency (PMID: 24367056; 26008905). The data, however, are preliminary and available evidence is insufficient to make a determination regarding these relationships.

SLX4

The SLX4 gene is associated with autosomal recessive Fanconi anemia, type P (FA-P) (MedGen UID: 450103).

SMAD4

The SMAD4 gene is associated with autosomal dominant juvenile polyposis syndrome (JPS) (MedGen UID: 87518), hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 331400), and Myhre syndrome (MedGen UID: 167103).

SMARCA4

The SMARCA4 gene is associated with an increased risk of autosomal dominant small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) (PMID: 24658002, 24658001) and Coffin-Siris syndrome (MedGen UID: 766163).

SMARCB1

The SMARCB1 gene is associated with autosomal dominant rhabdoid tumor predisposition syndrome 1 (RTPS1) (MedGen UID: 322892), schwannomatosis (MedGen UID: 234775), and Coffin-Siris syndrome (MedGen UID: 766162).

SMARCE1

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).

SPINK1

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

SPRED1

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

STK11

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

SUFU

The SUFU gene is associated with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS) (MedGen UID: 2554).

T
TERC

The TERC gene is associated with autosomal dominant TERC-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 338831).

TERT

The TERT gene is associated with both autosomal dominant and autosomal recessive TERT-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462793).

TINF2

The TINF2 gene is associated with autosomal dominant TINF2-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462795).

TMEM127

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

TP53

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

TSC1

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

TSC2

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

U
USB1

The USB1 gene is associated with autosomal recessive poikiloderma with neutropenia (PN) (MedGen UID: 388129). In addition, there is preliminary evidence of an association with autosomal recessive dyskeratosis congenita (PMID: 20817924, 25044170). The data, however, are preliminary insufficient to make a determination regarding this relationship.

V
VHL

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
WRAP53

The WRAP53 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dyskeratosis congenita due to WRAP53 deficiency (MedGen UID: 462792).

WRN

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

WT1

The WT1 gene is associated with autosomal dominant Denys-Drash syndrome (MedGen UID: 181980), Wilms tumor (MedGen UID: 447509), WAGR syndrome (MedGen UID: 64512), and Frasier syndrome (MedGen UID: 215533).

X
XRCC2

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 (PMID: 22464251, 25452441) and autosomal recessive Fanconi anemia (PMID: 22232082).

Y
Z