New York Approved Hereditary Cancer

The ABRAXAS1 gene, formerly known as FAM175A, currently has no well-established disease association. There is limited evidence suggesting ABRAXAS1 has an association with autosomal dominant predisposition to breast cancer (PMID: 22357538); however, this has not been replicated in large meta-analyses (PMID: 33471991).

The ACAN gene is associated with a spectrum of autosomal dominant skeletal conditions ranging from nonsyndromic short stature (MedGen UID: 777109) to spondyloepiphyseal dysplasia, Kimberley type (SEDK) (MedGen UID: 330777), and autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) (MedGen UID: 411237).

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

The ADA gene is associated with autosomal recessive severe combined immunodeficiency due to adenosine deaminase deficiency (MedGen UID: 354935).

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

There is limited evidence suggesting a possible association with the AKT1 gene and autosomal dominant Cowden syndrome and Cowden-like syndrome (PMID: 23246288). The AKT1 gene 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. This assay is not intended for disorders of somatic mosaicism.

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

The ANKRD26 gene is associated with isolated, non-syndromic autosomal dominant thrombocytopenia (MedGen UID: 349976). Additionally, the ANKRD26 gene has preliminary evidence supporting a correlation with autosomal dominant familial leukemia (PMID: 24628296, 24030261).

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

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) (MedGen UID: 1657285).

The ARID1A gene is associated with autosomal dominant Coffin-Siris syndrome (MedGen UID: 766161).

The ATM gene is associated with autosomal dominant predisposition to breast, ovarian, pancreatic (PMID: 26483394, 28888541, 30733081), and prostate cancer (PMID: 27989354, 28657667). ATM is also associated with autosomal recessive ataxia-telangiectasia (A-T) (MedGen UID: 439). Additionally, the ATM gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to gastric (PMID: 26182300) and colon cancer (PMID: 30862463).

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

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

The BAP1 gene is associated with autosomal dominant BAP1 tumor predisposition syndrome (MedGen UID: 482122). Additionally, the BAP1 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to meningioma (PMID: 28793149, 34628055, 34504799).

The BARD1 gene is associated with autosomal dominant predisposition to breast cancer (MedGen UID: 87542).

The BLM gene is associated with autosomal recessive Bloom syndrome (MedGen UID: 2685). Additionally, the BLM gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to colorectal cancer (PMID: 12242432, 26358404).

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

The BRCA1 gene is associated with autosomal dominant hereditary breast and ovarian cancer (HBOC) syndrome (MedGen UID: 151793). Additionally, the BRCA1 gene has preliminary evidence supporting a correlation with autosomal recessive Fanconi anemia (MedGen UID: 1632414).

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

The BRIP1 gene is associated with autosomal dominant predisposition to ovarian cancer (PMID: 30733081) and autosomal recessive Fanconi anemia (MedGen UID: 323015). Additionally, the BRIP1 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to breast and prostate cancer (PMID: 17033622, 28418444, 30733081, 32708810, 32853339).

The BUB1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mosaic variegated aneuploidy syndrome (PMID: 35044816) and autosomal dominant predisposition to colorectal cancer (PMID: 28944238, 29448935, 33193653).

The BUB1B gene is associated with autosomal recessive mosaic variegated aneuploidy (MVA) syndrome (MedGen UID: 338026). Additionally, the BUB1B gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to colorectal cancer (PMID: 32585810).

The CARD11 gene is associated with autosomal recessive combined immunodeficiency due to CARD11 deficiency (MedGen UID: 767600), autosomal dominant B-cell expansion with NFKB and T-cell anergy (BENTA) (MedGen UID: 1641265) and autosomal dominant immunodeficiency with atopic disease (MedGen UID: 1627819).

The CARMIL2 gene is associated with autosomal recessive RLTPR (CARMIL2) deficiency (MedGen UID: 1648422).

The CASP10 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant and autosomal recessive autoimmune lymphoproliferative syndrome (ALPS-CASP10) (PMID: 10412980, 16446975).

The CASP8 gene is associated with autosomal recessive caspase-8 deficiency state (CEDS) (MedGen UID: 339548).

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, the CASR gene has preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 18756473) and chronic pancreatitis (PMID: 14641934, 16497624).

The CBL gene is associated with autosomal dominant Noonan-like syndrome with or without juvenile myelomonocytic leukemia (MedGen UID: 462153), which is one of the RASopathies (MedGen UID: 1792298). Additionally, the CBL gene has preliminary evidence supporting a correlation with autosomal dominant cerebral arteriopathy (PMID: 32637631).

The CD27 gene is associated with autosomal recessive CD27 deficiency (MedGen UID: 767454).

The CDC73 gene is associated with autosomal dominant hyperparathyroidism-jaw tumor syndrome (HPT-JT), parathyroid carcinoma, and familial isolated hyperparathyroidism (FIHP) (MedGen UID: 310065, 146361, 333554), collectively referred to as CDC73-related conditions. Additionally, the CDC73 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to malignant uterine tumors (PMID: 23293331, 12434154, 23029104).

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), and autosomal dominant blepharocheilodontic syndrome (BCDS) (MedGen UID: 1143022).

The CDK4 gene is associated with autosomal dominant predisposition to cutaneous melanoma (MedGen UID: 268851). Additionally, the CDK4 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to pancreatic cancer (PMID: 23384855).

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

The CDKN1C gene is associated with autosomal dominant Beckwith-Wiedemann syndrome (BWS) (MedGen UID: 2562), IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) (MedGen UID: 337364), and Silver-Russell syndrome (PMID: 24065356, 31976094).

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.

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

The CEP57 gene is associated with autosomal recessive mosaic variegated aneuploidy (MVA) syndrome (MedGen UID: 481473). Additionally, the CEP57 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to colorectal cancer (PMID: 31263571).

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

The CHEK2 gene is associated with autosomal dominant predisposition to breast, colon, thyroid, and prostate cancer (PMID: 15492928, 18759107, 21807500, 21876083, 25431674). Additionally, the CHEK2 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to ovarian, renal, and urinary tract cancer (PMID: 26681312, 27632928, 26424751, 11719428, 15492928, 29978187) and an autosomal recessive chromosomal instability syndrome (PMID: 30858171, 36529819).

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

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).

The CTLA4 gene is associated with autosomal dominant CTLA4 haploinsufficiency (MedGen UID 863651).

The CTNNA1 gene is associated with autosomal dominant CTNNA1-related diffuse gastric cancer (PMID: 34425242) and autosomal dominant butterfly-shaped pigmentary macular dystrophy (MedGen UID: 332348). Additionally, CTNNA1 gene has preliminary evidence supporting correlation with autosomal dominant familial exudative vitreoretinopathy (PMID: 33497368) and syndromic craniosynostosis (PMID: 31292255).

The CTPS1 gene is associated with autosomal recessive combined immunodeficiency due to CTPS1 deficiency (MedGen UID: 863054).

The CTR9 gene is associated with autosomal dominant CTR9-related neurodevelopmental disorder (PMID: 35499524). Additionally, the CTR9 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to Wilms tumor (PMID: 25099282, 29292210).

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

The CYLD gene is associated with autosomal dominant CYLD cutaneous syndrome (CCS) (PMID: 34744449), and frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (FTDALS8) (MedGen UID: 1728824).

The DDX41 gene is associated with autosomal dominant familial myeloproliferative/lymphoproliferative neoplasms (MPLPF) (MedGen UID: 895780).

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

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 predisposition to Wilms tumor (PMID: 25670083, 35230882).

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

The DLST gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to paraganglioma and pheochromocytoma (PMID: 30929736) and congenital diaphragmatic hernia (PMID: 26034137).

The DOCK8 gene is associated with autosomal recessive DOCK8 deficiency (MedGen UID: 369829).

The EGFR gene is associated with autosomal dominant predisposition to lung cancer (MedGen UID: 472093) and autosomal recessive neonatal inflammatory skin and bowel disease (MedGen UID: 863567).

The EGLN1 gene is associated with autosomal dominant familial erythrocytosis (MedGen UID: 377868). Additionally, the EGLN1 gene has preliminary evidene supporting a correlation with autosomal dominant hereditary paraganglioma-pheochromocytoma syndrome (PMID: 25263965, 19092153).

The ELANE gene is associated with autosomal dominant ELANE-related neutropenia, including both congenital (MedGen UID: 348506) and cyclical (MedGen UID: 65121).

The ELP1 gene (formerly known as IKBKAP) is associated with autosomal recessive familial dysautonomia (FD), also known as hereditary sensory and autonomic neuropathy type 3 (HSAN3) (MedGen UID: 41678). Additionally, the ELP1 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to medulloblastoma (PMID: 32296180).

The ENG gene is associated with autosomal dominant hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 468373).

The EPAS1 gene is associated with autosomal dominant familial erythrocytosis (MedGen UID: 435867). Additionally, the EPAS1 gene has preliminary evidence supporting a correlation with autosomal dominant paraganglioma-pheochromocytoma syndrome (PMID: 30877234, 31185588).

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, 33898318).

The ERCC4 gene is associated with autosomal recessive Fanconi anemia, type Q (MedGen UID: 815318) and xeroderma pigmentosa, group F (XPF) (MedGen UID: 120612). Additionally, the ERCC4 gene has preliminary evidence supporting a correlation with autosomal recessive Cockayne syndrome (PMID: 23623389).

The ERCC6L2 gene is associated with autosomal recessive ERCC6L2 (Hebo) deficiency (MedGen UID: 816680).

The ETV6 gene is associated with autosomal dominant thrombocytopenia (MedGen UID: 863974).

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

The EXT2 gene is associated with autosomal dominant hereditary multiple osteochondromas (HMO) (MedGen UID: 377018, previously called hereditary multiple exostoses). EXT2 is also associated with an autosomal recessive neurodevelopmental condition (MedGen UID: 909039).

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

The FADD gene is associated with autosomal recessive FADD deficiency (MedGen UID: 1376364).

The FANCA gene is associated with autosomal recessive Fanconi anemia, type A (FA-A) (MedGen UID: 483333).

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

The FANCC gene is associated with autosomal recessive Fanconi anemia, type C (FA-C) (MedGen UID: 483324). Additionally, the FANCC gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to breast, ovarian, and pancreatic cancer (PMID: 30733081, 15695377, 12750283).

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

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

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

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

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

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

The FANCM gene is associated with an autosomal recessive condition characterized by an increased risk for malignancy and infertility (OMIM: 618086). Additionally, the FANCM gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to breast cancer (PMID: 23409019, 25288723) and autosomal recessive Fanconi anemia (PMID: 16116422, 19423727, 21681190).

The FAS gene is associated with autosomal dominant and recessive autoimmune lymphoproliferative syndrome (ALPS-FAS) (MedGen UID: 231300).

The FASLG gene is associated with autosomal recessive autoimmune lymphoproliferative syndrome (ALPS-FASLG) (MedGen UID: 356158). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant ALPS (PMID: 8787672, 17605793).

The FBXW7 gene is associated with an autosomal dominant neurodevelopmental disorder (MedGen UID: 994848). Additionally, the FBXW7 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to Wilms tumor (PMID: 20332316).

The FCHO1 gene is associated with autosomal recessive combined immunodeficiency due to FCHO1 deficiency (PMID: 30822429).

The FH gene is associated with autosomal dominant FH tumor predisposition syndrome (MedGen UID: 353771) and autosomal recessive fumarate hydratase deficiency (FHD) (MedGen UID: 87458).

The FLCN gene is associated with autosomal dominant Birt-Hogg-Dubé (BHD) syndrome (MedGen UID: 91070). Additionally, there is evidence suggesting affected individuals may have an increased risk of cutaneous melanoma (PMID: 23414156, 31687461), colon polyps, and colorectal cancer (PMID: 20522427, 20392993).

The FOCAD gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to polyposis (PMID: 35622075).

The G6PC3 gene is associated with autosomal recessive severe congenital neutropenia (MedGen UID: 436454).

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 (PMID: 19617566, 22461326, 29749045).

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

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

The GCM2 gene is associated with autosomal recessive hypoparathyroidism (MedGen UID: 327077). Additionally, the GCM2 gene has preliminary evidence supporting a correlation with autosomal dominant hypoparathyroidism (PMID: 18583467, 18712808) and hyperparathyroidism (PMID: 27745835, 32576032).

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).

The GFI1 gene is associated with autosomal dominant severe congenital neutropenia due to GFI1 deficiency (MedGen UID: 413975).

The GNA11 gene is associated with autosomal dominant hypocalcemia (ADH) (MedGen UID: 815573) and familial hypocalciuric hypercalcemia (FHH) (MedGen UID: 374447). This assay is not intended for disorders of somatic mosaicism.

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

The GPR161 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to medulloblastoma (PMID: 31609649).

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).

The HAX1 gene is associated with autosomal recessive severe congenital neutropenia due to HAX1 deficiency (MedGen UID: 1713491).

The HOXB13 gene is associated with autosomal dominant predisposition to prostate cancer (MedGen UID: 369689).

The HRAS gene is associated with autosomal dominant Costello syndrome (MedGen UID: 108454).

The IKZF1 gene is associated with autosomal dominant common variable immunodeficiency (CVID) due to IKAROS deficiency (MedGen UID: 905078) and autosomal dominant combined immunodeficiency (CID) due to IKAROS deficiency (PMID: 29889099). Additionally, the IKZF1 gene has preliminary evidence supporting a correlation with autosomal dominant acute lymphoblastic leukemia (ALL) (PMID: 25753742). The data, however, are insufficient to make a determination regarding this relationship.

The IL10RA gene is associated with autosomal recessive early onset inflammatory bowel disease (IBD), due to interleukin 10 receptor alpha deficiency (MedGen UID: 442630).

The IL2RA gene is associated with autosomal recessive CD25 deficiency (MedGen UID: 377894).

The IL2RB gene is associated with autosomal recessive immunodeficiency with lymphoproliferation and autoimmunity due to CD122 deficiency (MedGen UID: 943634).

The ITK gene is associated with autosomal recessive ITK deficiency (MedGen UID: 765548).

The JAK1 gene is associated with an autosomal dominant autoinflammation, immune dysregulation, and eosinophilia syndrome (MedGen UID: 1750270). Additionally, the JAK1 gene has preliminary evidence supporting a correlation with autosomal recessive Mendelian susceptibility to mycobacterial disease (PMID: 28008925) and with melanoma (PMID: 29641532).

The KDM1A gene is associated with an autosomal dominant neurodevelopmental condition (MedGen UID: 895943).

The KIF1B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (PMID: 24694336), neuroblastoma (PMID: 18614535, 18334619, 24469107), and Charcot-Marie-Tooth disease (CMT) (PMID: 30373780).

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

The KLHDC8B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to lymphoma (PMID: 19706467, 31827242).

The KRAS gene is associated with autosomal dominant Noonan spectrum disorders inclusive of Noonan syndrome (MedGen UID: 349931), cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501102), Costello syndrome (PMID: 17056636, 17468812), and mosaic RASopathy syndromes including oculoectodermal syndrome (OES), encephalo‐cranio‐cutaneous lipomatosis (ECCL), and Schimmelpenning‐ Feuerstein‐Mims syndrome (SFMS) (PMID: 25808193, 30891959).

The LZTR1 gene is associated with autosomal dominant LZTR1-related schwannomatosis (MedGen UID: 816613). In addition, LZTR1 is associated with autosomal dominant and autosomal recessive Noonan spectrum disorders (NSDs) (MedGen UID: 902892, MedGen UID: 344290).

The MAD2L2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Fanconi Anemia (PMID: 27500492).

The MAGT1 gene is associated with X-linked recessive immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN) (MedGen UID: 477076). Additionally, the MAGT1 gene has preliminary evidence supporting a correlation with X-linked recessive congenital disorder of glycosylation type Icc (MedGen UID: 1684742).

The MAX gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 313270). Additionally, the MAX gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to renal cancer (PMID: 28973655) and pituitary adenomas (PMID: 32201880, 33367756, 34135865).

The MBD4 gene is associated with autosomal recessive MBD4-associated neoplasia syndrome (MANS) (MedGen UID: 995533). Additionally, the MBD4 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to uveal melanoma (MedGen UID: 376198).

The MC1R gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant cutaneous malignant melanoma (PMID: 32249949, 32780924, 32898390).

The MCM4 gene is associated with autosomal recessive MCM4 deficiency (MedGen UID: 351256).

The MDH2 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1372686). Additionally, the MDH2 gene has preliminary evidence supporting a correlation with autosomal dominant paraganglioma-pheochromocytoma (PGL-PCC) syndrome (PMID: 30008476), and autosomal dominant hyperglycemia (PMID 34718610).

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).

The MECOM gene is associated with autosomal dominant radioulnar synostosis with amegakaryocytic thrombocytopenia (MedGen UID: 901732, 29540340).

The MEN1 gene is associated with autosomal dominant multiple endocrine neoplasia type 1 (MedGen UID: 9957) and familial isolated hyperparathyroidism (FIHP) (OMIM: 145000). Additionally, the MEN1 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to thyroid cancer (PMID: 30608029), and paraganglioma-pheochromocytoma syndrome (PGL-PCC) (PMID: 22723327, 27572829, 32130200).

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

The MITF gene is associated with autosomal dominant Waardenburg syndrome, type 2a (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).

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

The MLH3 gene 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).

The MRE11 gene, formerly known as MRE11A, is associated with autosomal recessive ataxia-telangiectasia-like disorder (ATLD) (MedGen UID: 861227). There is also limited evidence suggesting the MRE11 gene is associated with autosomal dominant predisposition to breast and gynecologic cancers (PMID: 14684699, 24894818, 24549055, 25452441); however, this has not been replicated in large meta-analyses (PMID: 33471991).

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).

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, 37402566); however, the evidence is preliminary and insufficient to make a determination regarding these relationships.

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).

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

The NBN gene is associated with autosomal recessive Nijmegen breakage syndrome (NBS) (MedGen UID: 140771). Additionally, the NBN gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to ovarian, endometrial, and prostate cancer (PMID: 26720728, 29988077, 30733081, 31406321).

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).

The NF2 gene is associated with autosomal dominant NF2-related schwannomatosis, previously known as neurofibromatosis type 2 (MedGen UID: 18014).

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

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

The NPAT gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to lymphoma (PMID: 21562039).

The NTHL1 gene is associated with autosomal recessive NTHL1-associated polyposis (MedGen UID: 902388). Additionally, the NTHL1 gene has preliminary evidence suggesting females with biallelic pathogenic variants in NTHL1 may have an increased risk of breast and possibly gynecologic cancer (PMID: 35292903).

The NYNRIN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to Wilms tumor (PMID: 30885698).

The PALB2 gene is associated with autosomal dominant predisposition to breast, pancreatic (PMID: 25099575, 31841383), ovarian (PMID: 30733081), and possibly prostate cancer (PMID: 17287723, 27433846) in addition to autosomal recessive Fanconi anemia (MedGen UID: 372133). The PALB2 gene also has preliminary evidence suggesting an association with autosomal dominant predisposition to colorectal cancer (PMID: 29478780).

The PALLD gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with predisposition to pancreatic cancer (PMID: 30113427).

The PARN gene is associated with autosomal dominant and autosomal recessive dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 905452).

The PAX5 gene is associated with autosomal dominant PAX5-related neurodevelopmental disorder (PMID: 35094443). In addition, the PAX5 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to leukemia (PMID: 24287434, 24013638).

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

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.

The PIK3CA gene is associated with PROS (PIK3CA-related overgrowth syndrome), a spectrum of overgrowth conditions that occur when the pathogenic variant is present as somatic mosaicism and is not inherited (MedGen UID: 851807). There is also evidence suggesting PIK3CA may be associated with autosomal dominant Cowden syndrome and Cowden-like syndrome (PMID: 23246288). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

The PIK3CD gene is associated with autosomal dominant activated phosphoinositide 3-kinase δ (PI3K-delta) syndrome (MedGen UID: 811535). Additionally, the PIK3CD gene has preliminary evidence supporting a correlation with autosomal recessive phosphoinositide 3-kinase δ deficiency (PMID: 30040974).

The PIK3R1 gene is associated with autosomal dominant SHORT syndrome (MedGen UID: 164212), autosomal dominant activated PI3K-delta syndrome (PMID: 25133428) and autosomal recessive agammaglobulinemia (PMID: 22351933).

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).

The POLD1 gene is associated with autosomal dominant predisposition to PPAP (polymerase proofreading–associated polyposis) (MedGen UID: 1687472) and autosomal dominant MDPL syndrome (mandibular hypoplasia, deafness, progeroid features, and lipodystrophy) (MedGen UID: 811623). Additionally, the POLD1 gene has 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 POLE gene is associated with autosomal dominant PPAP (polymerase proofreading–associated polyposis) (MedGen UID: 767374) and autosomal recessive FILS syndrome (facial dysmorphism, immunodeficiency, livedo, and short stature) (MedGen UID: 767490).

The POT1 gene is associated with autosomal dominant POT1 tumor predisposition syndrome (MedGen UID: 862913).

The PRF1 gene is associated with autosomal recessive familial hemophagocytic lymphohistiocytosis type 2 (FHL2) (MedGen UID: 400366). There is also preliminary evidence supporting a correlation with non-Hodgkin lymphoma (PMID: 25215106, 23734337, 24390453).

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

The PRKCD gene is associated with autosomal recessive PRKC delta deficiency (MedGen UID: 816258).

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

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).

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 (PMID: 18285427, 31945512).

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 also been described (PMID: 11755638, 17392703, 27890237).

The PTPN11 gene is associated with autosomal dominant Noonan spectrum disorders inclusive of Noonan syndrome (MedGen UID: 1638960) and Noonan syndrome with multiple lentigines (NSML) (MedGen UID: 1631694). In addition, PTPN11 is associated with autosomal dominant metachondromatosis (MedGen UID: 98377).

The RAC2 gene is associated with autosomal dominant neutrophil immunodeficiency syndrome (MedGen UID: 374920), autosomal dominant combined immunodeficiency (PMID: 30654050), and autosomal recessive common variable immunodeficiency (PMID: 25512081).

The RAD50 gene is associated with autosomal recessive Nijmegen breakage syndrome-like disorder (NBSLD) (MedGen UID: 442700).

The RAD51 gene is associated with autosomal dominant congenital mirror movements (MedGen UID: 482719) and autosomal dominant Fanconi anemia (MedGen UID: 924579).

The RAD51C gene is associated with autosomal dominant predisposition to breast and ovarian cancer (MedGen UID: 462009) and autosomal recessive Fanconi anemia, type O (FA-O) (MedGen UID: 462003).

The RAD51D gene is associated with autosomal dominant predisposition to breast and ovarian cancer (MedGen UID: 481975).

The RASGRP1 gene is associated with autosomal recessive RASGRP1 deficiency (PMID: 11017103, 27776107, 28822832).

The RB1 gene is associated with autosomal dominant retinoblastoma (MedGen UID: 20552). There is also evidence suggesting RB1 is associated with predisposition to several cancer types among retinoblastoma survivors (PMID: 14996857, 22355046).

The RECQL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive RECQL-related genome instability disorder (PMID: 35025765). There is also limited evidence suggesting RECQL may be associated with autosomal dominant predisposition to breast cancer (PMID: 28724667, 30610487); however, this has not been replicated in large meta-analyses (PMID: 33471991).

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).

The RELA gene is associated with autosomal dominant chronic mucocutaneous ulceration (MedGen UID: 1648375). Additionally, the RELA gene has preliminary evidence supporting a correlation with autosomal dominant autoimmune lymphoproliferative syndrome (PMID: 29305315).

The REST gene is associated with autosomal dominant predisposition to Wilms tumor (MedGen UID: 855962), autosomal dominant gingival fibromatosis, type 5 (MedGen UID: 1624392), and autosomal dominant nonsyndromic hearing loss (MedGen UID: 854637).

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

The RFWD3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Fanconi anemia (PMID: 28691929).

The RHBDF2 gene is associated with autosomal dominant tylosis with esophageal cancer (MedGen UID: 324338).

The RHOH gene is associated with autosomal recessive T-cell immunodeficiency with epidermodysplasia verruciformis (PMID: 22850876).

The RINT1 gene is associated with autosomal recessive Infantile liver failure syndrome (MedGen UID: 1684678). There is also limited evidence suggesting RINT1 has a possible association with autosomal dominant predisposition to breast cancer (PMID: 22357538); however, this has not been replicated in large meta-analyses (PMID: 33471991).

The RMRP gene is associated with autosomal recessive cartilage-hair hypoplasia-anauxetic dysplasia (CHH-AD) spectrum disorders (MedGen UID: 375972).

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: 31243857).

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

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

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).

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

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

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

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

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

The 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).

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

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

The RPS29 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 863078).

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

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

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

The SAMD9 gene is associated with autosomal dominant myelodysplasia, infection, restriction of growth, adrenal hypoplasia and insufficiency, genital abnormalities, and enteropathy (MIRAGE) syndrome (MedGen UID: 924576) and autosomal recessive normophosphatemic familial tumoral calcinosis (NFTC) (MedGen UID: 355311).

The SAMD9L gene is associated with autosomal dominant ataxia-pancytopenia (AP) syndrome (MedGen UID: 230896) and systemic autoinflammatory disease (PMID: 34417303, 31874111).

The SDHA gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 481622), and autosomal dominant and autosomal recessive mitochondrial complex II (CII) deficiency, with or without cardiomyopathy (MedGen UID: 344401). Additionally, the SDHA gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to renal cancer (PMID: 26722403) and pituitary adenomas (PMID: 26259135, 32621582).

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

The SDHB gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 349380) and autosomal recessive mitochondrial complex II (CII) deficiency, with or without cardiomyopathy (MedGen UID: 344401). Additionally, the SDHB gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to pituitary adenomas (PMID: 26259135).

The SDHC gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 340200). Additionally, the SDHC gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to pituitary adenomas (PMID: 26259135, 32621582).

The SDHD gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 358258) and autosomal recessive mitochondrial complex II (CII) deficiency, with or without cardiomyopathy (MedGen UID: 344401). Additionally, the SDHD gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to renal cancer (PMID: 19802898, 23083876) and pituitary adenomas (PMID: 26259135).

The SH2D1A gene is associated with X-linked recessive lymphoproliferative syndrome 1 (XLP1) (MedGen UID: 358381).

The SLC25A11 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to paraganglioma and pheochromocytoma (PMID: 29431636).

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

The SMAD4 gene is associated with autosomal dominant juvenile polyposis syndrome (JPS) (MedGen UID: 87518), hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 331400), familial thoracic aortic aneurysm and aortic dissection (TAAD) (MedGen UID: 1644766), and Myhre syndrome (MedGen UID: 167103).

The SMARCA4 gene is associated with rhabdoid tumor predisposition syndrome, type 2 (RTPS2), autosomal dominant small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) (PMID: 24658002, 24658001), and Coffin-Siris syndrome (CSS) (MedGen UID: 766163).

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 (CSS) (MedGen UID: 766162).

The SMARCE1 gene is associated with autosomal dominant familial meningioma (MedGen UID: 232281) and Coffin-Siris syndrome (MedGen UID: 934755).

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

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

The SRP72 gene is associated with autosomal dominant familial bone marrow failure (MedGen UID: 814883).

The STAT3 gene is associated with autosomal dominant Hyper-IgE syndrome (MedGen UID: 483748) and autosomal dominant STAT3 gain-of-function (MedGen UID: 925793).

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

The STK4 gene is associated with autosomal recessive combined immunodeficiency due to MST1 deficiency (MedGen UID: 766857).

The STXBP2 gene is associated with autosomal recessive familial hemophagocytic lymphohistiocytosis type 5 (FHL5) (MedGen UID: 416514). There is also preliminary evidence supporting a correlation with autosomal dominant familial hemophagocytic lymphohistiocytosis (PMID: 25564401).

The SUCLG2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant paraganglioma-pheochromocytoma (PGL-PCC) syndrome (PMID: 34415331) and autosomal recessive mitochondrial DNA depletion syndrome (PMID: 21295139, 18392745).

The SUFU gene is associated with autosomal dominant basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (MedGen UID: 2554), congenital ocular motor apraxia (COMA) (PMID: 33024317), and autosomal recessive Joubert syndrome (MedGen UID: 1626697).

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

The TERF2IP gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to lymphoma (PMID: 27528712) and familial melanoma (PMID: 2550525, 20339076).

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

The TET2 gene is associated with autosomal recessive TET2 deficiency (MedGen UID: 1741014). Additionally, the TET2 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to myeloid neoplasms (PMID: 31827242).

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

The TMEM127 gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 18419). Additionally, the TMEM127 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to renal cancer (PMID: 33051659, 28973655).

The TNFRSF13B gene, also known as TACI, is associated with autosomal recessive common variable immunodeficiency (CVID) due to TACI deficiency (MedGen UID: 461704). Single pathogenic variants may contribute to CVID risk (PMID: 27250108).

The TNFRSF9 gene is associated with autosomal recessive CD137 deficiency (PMID: 31501153, 30872117).

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

The TPP2 gene is associated with autosomal recessive tripeptidyl peptidase II deficiency (PMID: 25414442).

The TRIM28 gene is associated with autosomal dominant predisposition to nonsyndromic Wilms tumor (MedGen UID: 1791443).

The TRIP13 gene is associated with autosomal recessive mosaic variegated aneuploidy syndrome (MVA) (MedGen UID: 1616382) and female infertility due to oocyte maturation arrest (MedGen UID: 1724427).

The TRPV6 gene is associated with autosomal recessive transient neonatal hyperparathyroidism (MedGen UID: 722059). Additionally, the TRPV6 gene has preliminary evidence supporting a correlation with increased risk of chronic pancreatitis (PMID: 31930989).

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

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

The UBE2T gene is associated with autosomal recessive Fanconi anemia, type T (FA-T) (MedGen UID: 896157).

The USB1 gene is associated with autosomal recessive poikiloderma with neutropenia (PN) (MedGen UID: 388129).

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).

The WAS gene is associated with X-linked recessive Wiskott-Aldrich syndrome (MedGen UID: 21921), severe congenital neutropenia (MedGen UID: 335314) and thrombocytopenia (MedGen UID: 326416), collectively known as WAS-related disorders.

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

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

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).

The XIAP gene is associated with X-linked lymphoproliferative syndrome 2 (XLP2) (MedGen UID: 336848).

The XRCC2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Fanconi anemia (PMID: 22232082). There is also limited data suggesting a possible association with autosomal dominant predisposition to breast cancer (PMID: 22464251, 25452441); however, this has not been replicated in large meta-analyses (PMID: 33471991).