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).
The ACD gene is associated with autosomal dominant and autosomal recessive dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 904824).
The AIP gene is associated with predisposition to autosomal dominant familial isolated pituitary adenoma (FIPA) (MedGen UID: 489979).
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.
The ALK gene is associated with autosomal dominant predisposition to neuroblastoma (MedGen UID: 414083).
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) (PMID: 27087319).
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.
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.
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). 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.
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.
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.
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).
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 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.
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.
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.
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.
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.
The CDK4 gene is associated with autosomal dominant predisposition to cutaneous melanoma (MedGen UID: 268851).
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) and IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) (MedGen UID: 337364).
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, 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.
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).
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.
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 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.
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).
The CTRC gene is associated with an increased risk for chronic pancreatitis (MedGen UID: 116056).
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, 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).
The DKC1 gene is associated with X-linked dyskeratosis congenita spectrum disorders (DC) (MedGen UID: 216941).
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).
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.
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).
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).
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.
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. Additionally, the EXT2 gene has preliminary evidence supporting a correlation with autosomal recessive seizures, scoliosis, and macrocephaly/microcephaly syndrome (MedGen UID: 909039).
The EZH2 gene is associated with autosomal dominant Weaver syndrome (MedGen UID: 120511).
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).
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 (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.
The FANCD2 gene is associated with autosomal recessive Fanconi anemia (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, 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.
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.
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.
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).
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) and Emberger syndrome (MedGen UID: 481294).
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 GNA11 gene is associated with autosomal dominant hypocalcemia (ADH) (MedGen UID: 815573) and familial hypocalciuric hypercalcemia (FHH) (MedGen UID: 374447).
The GPC3 gene is associated with X-linked recessive Simpson-Golabi-Behmel syndrome (MedGen UID: 162917).
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 HOXB13 gene is associated with autosomal dominant predisposition to prostate cancer (PMID: 22236224, 23064873, 26517352, 26108461, 25629170, 25595936, 24026887).
The HRAS gene is associated with autosomal dominant Costello syndrome (MedGen UID: 108454).
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).
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).
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).
The MAX gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 313270).
The MC1R gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant cutaneous malignant melanoma (MedGen UID: 416516).
The MDM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant bone marrow failure (PMID: 29146883) and autosomal recessive segmental progeroid syndrome (PMID: 28846075).
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.
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).
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).
The MLH1 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 232603) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).
The MLH3 gene 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 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.
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). The data, however, are 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). 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.
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 neurofibromatosis type 2 (NF2) (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 NTHL1 gene is associated with autosomal recessive NTHL1-associated polyposis (MedGen UID: 902388).
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.
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).
The PARN gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 905452), and autosomal dominant telomere-related pulmonary fibrosis (PMID: 25848748).
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 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).
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 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.
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).
The POT1 gene is associated with autosomal dominant POT1 tumor predisposition syndrome (MedGen UID: 862913).
The PRKAR1A gene is associated with autosomal dominant Carney complex (CNC) (MedGen UID: 388559) and acrodysostosis (MedGen UID: 477858).
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). 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.
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).
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).
The RAD50 gene is associated with autosomal recessive Nijmegen breakage syndrome-like disorder (NBSLD) (PMID: 19409520).
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.
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.
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).
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).
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 REST gene is associated with autosomal dominant predisposition to Wilms tumor (PMID: 26551668, 9771705).
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).
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).
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).
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 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.
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), 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.
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).
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.
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) and Myhre syndrome (MedGen UID: 167103).
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.
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).
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 STK11 gene is associated with autosomal dominant Peutz-Jeghers syndrome (PJS) (MedGen UID: 18404).
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).
The TERC gene is associated with autosomal dominant TERC-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 338831).
The TERT gene is associated with both autosomal dominant and autosomal recessive TERT-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462793).
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).
The TP53 gene is associated with autosomal dominant Li-Fraumeni syndrome (LFS) (MedGen UID: 322656).
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 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 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 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).
