Hereditary Cancer

Cross-Cancer Panels
84 genes

Invitae Multi-Cancer Panel

Learn More

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.

84 genes

Invitae Multi-Cancer + RNA Panel

Learn More

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. In addition, RNA testing is performed to help identify and interpret DNA variants in 63 genes from this panel.

47 genes

Invitae Common Hereditary Cancers Panel

Learn More

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

47 genes

Invitae Common Hereditary Cancers + RNA Panel

Learn More

Genetic testing for 47 genes that are associated with hereditary breast, ovarian, uterine, colorectal, gastric, prostate, melanoma, and pancreatic cancers. In addition, RNA testing is performed to help identify and interpret DNA variants in 40 genes from this panel.

STAT Turnaround Time
up to 9 genes

Invitae Breast Cancer STAT Panel

Learn More

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

Learn More

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

Learn More

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

Learn More

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

Learn More

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

Learn More

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

Learn More

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

Learn More

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

Learn More

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

Learn More

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

up to 32 genes

Invitae Renal/Urinary Tract Cancers Panel

Learn More

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

Learn More

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

Learn More

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

Learn More

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

Learn More

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

Learn More

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

Learn More

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

up to 12 genes

Invitae Melanoma Panel

Learn More

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

Learn More

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

10 genes

Invitae Prostate Cancer HRR Panel

Learn More

Genetic testing may confirm a clinical diagnosis and guide treatment and management decisions. At-risk relatives may also be identified, allowing pursuit of a diagnostic evaluation, early detection and improved clinical outcome. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

53 genes

Invitae Pediatric Solid Tumors Panel

Learn More

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

Learn More

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

Learn More

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

up to 2 genes

Invitae Hereditary Diffuse Gastric Cancer Syndrome Test

Learn More

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

up to 2 genes

Invitae Neurofibromatosis Type 1 Test

Learn More

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.

1 gene

Invitae Simpson-Golabi-Behmel Syndrome Test

Learn More

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.

up to 7 genes

Invitae Wilms Tumor Panel

Learn More

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

Learn More

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

3 genes

Invitae Schwannomatosis Panel

Learn More

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

1 gene

Invitae Familial Isolated Pituitary Adenomas Test

Learn More

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

1 gene

Invitae Ataxia-Telangiectasia Test

Learn More

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

1 gene

Invitae BAP1 Hereditary Cancer Predisposition Syndrome Test

Learn More

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

up to 3 genes

Invitae Basal Cell Nevus Syndrome Panel

Learn More

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

Learn More

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

Learn More

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

Learn More

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 CDC73-Related Conditions Test

Learn More

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

Learn More

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 DICER1 Syndrome Test

Learn More

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

1 gene

Invitae Familial Acute Myeloid Leukemia with Mutated CEBPA Test

Learn More

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

Learn More

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

Learn More

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

up to 3 genes

Invitae Familial Neuroblastoma Panel

Learn More

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

Learn More

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

Learn More

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

Learn More

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

Learn More

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

Learn More

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

Learn More

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

Learn More

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

1 gene

Invitae Li-Fraumeni Syndrome Test

Learn More

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

5 genes

Invitae Lynch Syndrome Panel

Learn More

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

Learn More

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

Learn More

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

1 gene

Invitae Multiple Endocrine Neoplasia Type 2 Test

Learn More

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

Learn More

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

up to 2 genes

Invitae Neurofibromatosis Type 2 Test

Learn More

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

Learn More

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

Learn More

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

1 gene

Invitae Peutz-Jeghers Syndrome Test

Learn More

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

1 gene

Invitae RECQL4-Related Disorders Test

Learn More

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.

2 genes

Invitae Rhabdoid Tumor Predisposition Syndrome Panel

Learn More

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

1 gene

Invitae Small Cell Carcinoma of the Ovary Hypercalcemic Type Test

Learn More

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

Learn More

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 Weaver Syndrome Test

Learn More

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

Learn More

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

Learn More

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 is associated with autosomal dominant and autosomal recessive dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 904824).

AIP

The AIP gene is associated with predisposition to autosomal dominant familial isolated pituitary adenoma (FIPA) (MedGen UID: 489979).

AKT1

The AKT1 gene has preliminary evidence supporting a correlation with autosomal dominant Cowden syndrome and Cowden-like syndrome (PMID: 23246288). AKT1 is also associated with Proteus syndrome (MedGen UID: 39008); however this condition is due to a specific AKT1 variant, c.49G>A, when present as somatic mosaicism.

ALK

The ALK gene is associated with autosomal dominant predisposition to neuroblastoma (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 possibly prostate cancer (PMID: 27989354, 28657667) in addition to autosomal recessive ataxia-telangiectasia (A-T) (MedGen UID: 439). There is also preliminary evidence suggesting ATM is associated with autosomal dominant predisposition to other cancer types including stomach (PMID: 30657113), ovarian (PMID: 28888541, 30733081), bladder (PMID: 26662178, 31844177) and colon (PMID: 30862463); although available evidence is insufficient to make a determination regarding these relationships.

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). The data, however, are preliminary and insufficient to make a determination regarding these relationships.

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). There is additional evidence to suggest BAP1 is associated with risk of meningioma (PMID: 26140217, 21941004). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

BARD1

The BARD1 gene is associated with autosomal dominant predisposition to breast cancer (MedGen UID: 87542). Elevated risks for ovarian cancer and neuroblastoma have also been suggested (PMID: 22006311, 23334666). The evidence, however, is preliminary and insufficient to make a determination regarding these relationships.

BLM

The BLM gene is associated with autosomal recessive Bloom syndrome (MedGen UID: 2685). Studies have suggested BLM may also be associated with an increased risk for autosomal dominant predisposition to colorectal cancer (PMID: 12242432, 26358404, 12702560, 18210922). The evidence, however, is preliminary and insufficient to make a determination regarding this relationship.

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 autosomal dominant predisposition to ovarian and possibly breast cancer (PMID: 17033622, 21964575, 26315354). Additionally, BRIP1 is associated with autosomal recessive Fanconi anemia (MedGen UID: 323015). There is also evidence to suggest BRIP1 is associated with autosomal dominant predisposition to prostate cancer (PMID: 29368341, 28657667, 29356034). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

BUB1B

The BUB1B gene is associated with autosomal recessive mosaic variegated aneuploidy (MVA) syndrome (MedGen UID: 338026). There is preliminary evidence suggesting that MVA may also be associated with colon cancer (PMID: 21190457, 21552266). The evidence, however, is preliminary and insufficient to make a determination regarding this relationship.

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 familial isolated hyperparathyroidism (FIHP) (PMID: 14985373, 21521328). Additionally, there is data suggesting CASR is associated with autosomal dominant idiopathic generalized epilepsy (PMID: 18756473) and chronic pancreatitis (PMID: 14641934, 16497624). The evidence, however, is insufficient to make a determination regarding these relationships.

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. There are data suggesting CDC73 may also be associated with autosomal dominant predisposition to malignant uterine tumors (PMID: 23293331, 12434154, 23029104). The evidence, however, is preliminary and insufficient to make a determination regarding this relationship.

CDH1

The CDH1 gene is associated with autosomal dominant predisposition to diffuse gastric cancer and lobular breast cancer, collectively known as hereditary diffuse gastric cancer (HDGC) syndrome (MedGen UID: 310839). There is preliminary evidence suggesting CDH1-associated HDGC may also be associated with an increased risk of colon cancer (PMID: 10072428). The evidence, however, is preliminary and insufficient to make a determination regarding this relationship.

CDK4

The CDK4 gene is associated with autosomal dominant predisposition to 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 (BWS) (MedGen UID: 2562) and IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) (MedGen UID: 337364).

CDKN2A

The CDKN2A gene is associated with autosomal dominant melanoma-pancreatic cancer syndrome (MedGen UID: 325450) and melanoma-neural system tumor (NST) syndrome (MedGen UID: 331890). The CDKN2A gene encodes two main proteins, p16INK4a and p14ARF.

CEBPA

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

CEP57

The CEP57 gene is associated with autosomal recessive mosaic variegated aneuploidy (MVA) syndrome (MedGen UID: 481473). Additionally, there is preliminary evidence supporting a correlation with MVA and colon cancer (PMID: 21190457). The data, however, are limited insufficient to make a determination regarding this relationship.

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 autosomal dominant predisposition to breast, colon, thyroid and prostate cancer (PMID: 15492928, 18759107, 21807500, 21876083, 25431674). Additionally, there is preliminary evidence supporting a correlation with CHEK2 and autosomal dominant predisposition to other cancer types including urinary tract cancer, ovarian cancer and melanoma (PMID: 26681312, 21956126, 27632928, 26424751, 11719428); however, the available evidence is insufficient to make a determination regarding these relationships.

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 is associated with autosomal dominant butterfly-shaped pigmentary macular dystrophy (MedGen UID: 332348). Additionally, CTNNA1 has preliminary evidence supporting a correlation with autosomal dominant hereditary diffuse gastric cancer; however, the available evidence is insufficient to make a determination regarding this relationship (PMID: 23208944, 26182300, 32051609). This result should be considered in the context of personal and family history of diffuse gastric cancer and may warrant additional surveillance (PMID: 32758476). To date, loss-of-function variants in CTNNA1 have not been associated with butterfly-shaped pigmentary macular dystrophy.

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, DIS3L2 has preliminary evidence supporting a correlation with autosomal dominant predisposition to non-syndromic Wilms tumor; however, the available evidence is insufficient to make a determination regarding this relationship (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 (MedGen UID: 472093). Additionally, there is preliminary evidence that EGFR is associated with autosomal recessive ectodermal dysplasia; however, the available evidence is insufficient to make a determination regarding this relationship (PMID: 26436111, 29899996).

EGLN1

The EGLN1 gene is associated with autosomal dominant familial erythrocytosis (MedGen UID: 377868). Additionally, there is preliminary evidence suggesting EGLN1 is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma syndrome (PMID: 25263965, 19092153, 20959442). The data, however, are are insufficient to make a determination regarding this relationship.

ENG

The ENG gene is associated with autosomal dominant hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 468373). Additionally, the ENG gene has preliminary evidence supporting a correlation with autosomal dominant juvenile polyposis syndrome (MedGen UID: 87518).

EPCAM
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, type Q (MedGen UID: 815318) and xeroderma pigmentosa, group F (XPF) (MedGen UID: 120612). Studies also suggest ERCC4 may be associated with autosomal recessive Cockayne syndrome (PMID: 23623389). The data, however, are preliminary and available evidence is insufficient to make a determination regarding this relationship.

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. Additionally, the EXT2 gene has preliminary evidence supporting a correlation with autosomal recessive seizures, scoliosis, and macrocephaly/microcephaly syndrome (MedGen UID: 909039).

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 evidence suggesting FANCC is associated with autosomal dominant predisposition to breast and pancreatic cancer (PMID: 23028338, 12750283, 15695377). The data, however, are preliminary and insufficient to make a determination regarding these relationships.

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 (OMIM: 618086). 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). The data, however, are insufficient to make a determination regarding these relationships.

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). Studies suggest that BHD is also associated with an increased risk of colon polyps and colon cancer (PMID: 20522427, 20392993). The data, however, are preliminary and insufficient to made a determination regarding this relationship.

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: 374447).

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).

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), neuroblastoma (PMID: 18614535, 18334619, 24469107), and Charcot-Marie-Tooth disease (CMT) (PMID: 30373780).

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 spectrum disorders (NSDs) (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 autosomal dominant bone marrow failure (PMID: 29146883) and autosomal recessive segmental progeroid syndrome (PMID: 28846075).

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). It has also been suggested that MEN1 may be associated with autosomal dominant predisposition to thyroid cancer (PMID: 22723327) and hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (PMID: 1352309, 8678766, 9735087, 12016472, 22084155). The evidence, however, is preliminary and insufficient to make a determination regarding these relationships.

MET

The MET gene is associated with autosomal dominant predisposition to hereditary papillary renal cell carcinoma (HPRCC) (MedGen UID: 766) and autosomal recessive deafness (MedGen UID: 899875). Additionally, the MET gene has preliminary evidence supporting a correlation with arthrogryposis involving the upper limbs (PMID: 30777867).

MITF

The MITF gene is associated with autosomal dominant Waardenburg syndrome (MedGen UID: 349786) and autosomal recessive COMMAD syndrome (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (MedGen UID: 934592)). The c.952G>A (p.Glu318Lys) variant in MITF is associated with autosomal dominant predisposition to cutaneous malignant melanoma (MedGen UID: 463554).

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) and autosomal recessive colorectal polyposis (PMID: 27696107, 30573798, 31043711).

MRE11

The MRE11 gene, formerly known as MRE11A, is associated with autosomal recessive ataxia-telangiectasia-like disorder (ATLD) (MedGen UID: 861227). There is preliminary evidence suggesting phenotypic overlap between ATLD and autosomal recessive Joubert syndrome (PMID: 22863007). Additionally, MRE11 has preliminary evidence supporting a correlation with autosomal dominant predisposition to breast and gynecologic cancer (PMID: 14684699, 24894818, 24549055, 25452441). The data, however, are preliminary and insufficient to make a determination regarding these relationships.

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). This condition may also be associated with increased risks for other cancers (PMID: 27476653). The data, however, are preliminary and insufficient to make a determination regarding these relationships.

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 recessive Nijmegen breakage syndrome (NBS) (MedGen UID: 140771). There is also evidence suggesting NBN may be associated with autosomal dominant predisposition to ovarian, endometrial and prostate cancer (PMID: 26720728, 29988077, 30733081, 31406321). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

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 autosomal dominant predisposition to breast, pancreatic (PMID: 25099575, 31841383) and ovarian cancer (PMID: 30733081) and autosomal recessive Fanconi anemia (MedGen UID: 372133). Studies have suggested a correlation with PALB2 and autosomal dominant predisposition to prostate (PMID: 17287723) and male breast cancer (PMID: 31841383). The evidence, however, is preliminary and insufficient to make a determination regarding these relationships.

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 is associated with autosomal dominant GIST-plus syndrome (MedGen UID: 357402).

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 dominant predisposition to endometrial cancer (PMID: 23263490, 26133394), autosomal recessive combined immunodeficiency syndrome (PMID: 31629014) and autosomal recessive non-syndromic deafness (PMID: 31944473). The data, however, are preliminary and insufficient to make a determination regarding these relationships.

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 POT1 tumor predisposition syndrome (MedGen UID: 862913).

PRKAR1A

The PRKAR1A gene is associated with autosomal dominant Carney complex (CNC) (MedGen UID: 388559) and acrodysostosis (MedGen UID: 477858).

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). There is also evidence suggesting PTCH1 may be associated with autosomal dominant holoprosencephaly (HPE) (MedGen: 372134). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

PTCH2

The PTCH2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (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 recessive Nijmegen breakage syndrome-like disorder (NBSLD) (PMID: 19409520).

RAD51C

The RAD51C gene is associated with autosomal dominant predisposition to ovarian cancer (MedGen UID: 462009). Studies have also suggested RAD51C may be associated with autosomal dominant predisposition to breast cancer (PMID: 29988077, 22725699, 23372765), prostate cancer (PMID: 27433846), and autosomal recessive Fanconi anemia (PMID: 20400963). The data, however, are preliminary and insufficient to make a determination regarding these relationships.

RAD51D

The RAD51D gene is associated with autosomal dominant predisposition to ovarian cancer (MedGen UID: 481975). Studies have also suggested RAD51D may be associated with autosomal dominant predisposition to breast cancer (PMID: 29988077, 29522266, 23372765, 21822267) and prostate cancer (PMID: 27433846). The data, however, are preliminary and insufficient to make a determination regarding these relationships.

RB1

The RB1 gene is associated with autosomal dominant retinoblastoma (MedGen UID: 20552). Additionally, evidence of varying degrees suggests a possible association between RB1 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 (RTS) (MedGen UID: 10819), RAPADILINO syndrome (MedGen UID: 336602) and Baller-Gerold syndrome (BGS) (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 non-syndromic 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 autosomal recessive infantile liver failure syndrome (PMID: 31204009) and 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 is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 863078).

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 dominant and autosomal recessive mitochondrial complex II deficiency with or without cardiomyopathy (MedGen UID: 344401, PMID: 10976639, 27683074, 28724664). 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) syndrome (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 (CSS) (MedGen UID: 766163). Studies also suggested SMARCA4 may be associated with autosomal dominant rhabdoid tumor predisposition syndrome type 2 (RTPS2) (MedGen UID: 413749). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

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 Coffin-Siris syndrome (MedGen UID: 934755).

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 basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (MedGen UID: 2554) and autosomal recessive Joubert syndrome (MedGen UID: 1626697).

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).

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 is associated with autosomal recessive WRAP53-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462792).

WRN

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

WT1

The WT1 gene is associated with autosomal dominant Denys-Drash syndrome (MedGen UID: 181980), Wilms tumor predisposition syndrome (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