Gene List

AKT1
The AKT1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Cowden and Cowden-like syndrome. Other AKT1-related conditions have been reported

ALK
The ALK gene is associated with autosomal dominant neuroblastoma susceptibility

APC
The APC gene is associated with autosomal dominant familial adenomatous polyposis  and attenuated FAP (AFAP)

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

AXIN2
The AXIN2 gene is associated with autosomal dominant oligodontia-colorectal cancer syndrome

B
BAP1
The BAP1 gene is associated with autosomal dominant BAP1 tumor predisposition syndrome .

BARD1
The BARD1 gene is associated with an increased risk for autosomal dominant breast and possibly ovarian cancer in individuals who carry a single pathogenic BARD1 variant

BLM
The BLM gene is associated with autosomal recessive Bloom syndrome . Additionally, the BLM gene has preliminary evidence supporting a correlation with autosomal dominant colorectal cancer in individuals who carry a single pathogenic variant.

BMPR1A
Synonym(s): ACVRLK3
The BMPR1A gene is associated with autosomal dominant juvenile polyposis (JPS) syndrome

BRCA1
The BRCA1 gene is associated with autosomal dominant hereditary breast and ovarian cancer (HBOC) syndrome

BRCA2
Synonym(s): FANCD1, FACD, FANCD
The BRCA2 gene is associated with autosomal dominant hereditary breast and ovarian cancer (HBOC) syndrome and autosomal recessive Fanconi anemia, type D1 (FA-D1)

BRIP1
The BRIP1 gene is associated with an increased risk for autosomal dominant breast and ovarian cancer in individuals who carry a single pathogenic BRIP1 variant . Additionally, the BRIP1 gene is associated with autosomal recessive Fanconi anemia                .

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

C
CASR
Synonym(s): HHC, HHC1
The CASR gene is associated with autosomal dominant familial isolated hyperparathyroidism (FIH) , benign familial hypocalciuric hypercalcemia (BFHH) , autosomal dominant hypocalcemia (ADH) , and autosomal recessive neonatal severe hyperparathyroidism (NSHPT) . Additionally, there is preliminary evidence supporting a correlation with chronic pancreatitis.

CDC73
Synonym(s): C1orf28, HRPT2, HRPT1
The CDC73 gene is associated with autosomal dominant CDC73-related disorders .

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

CDK4
The CDK4 gene is associated with autosomal dominant hereditary cutaneous melanoma .

CDKN1B
The CDKN1B gene is associated with autosomal dominant multiple endocrine neoplasia (MEN), type 4

CDKN1C
Synonym(s): BWCR, BWS
The CDKN1C gene is associated with autosomal dominant Beckwith-Wiedemann syndrome . Additionally, the CDKN1C gene has preliminary evidence supporting a correlation with autosomal dominant Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGe syndrome) .

CDKN2A
Synonym(s): CDKN2, MLM
The CDKN2A gene is associated with autosomal dominant hereditary melanoma-pancreatic cancer syndrome (MedGen UID: 325450).

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

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

CFTR
Synonym(s): CF; ABCC7
The CFTR gene is associated with autosomal recessive cystic fibrosis (MedGen UID: 41393) and congenital absence of the vas deferens (CAVD) (MedGen UID: 98021). Additionally, the CFTR gene is associated with an increased risk for chronic pancreatitis.

CHEK2
Synonym(s): RAD53
The CHEK2 gene is associated with an increased risk for autosomal dominant breast, colon, thyroid and prostate cancers (PMID: 15492928, 18759107, 21807500, 21876083, 25431674).

CTC1
Synonym(s): C17orf68
The CTC1 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 78580)

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

CTRC
Synonym(s): CLCR, ELA4
The CTRC gene is associated with an increased risk for chronic pancreatitis (MedGen UID: 116056).

D
DICER1
Synonym(s): MNG1
The DICER1 gene is associated with autosomal dominant DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome (MedGen UID: 825667).

DIS3L2
Synonym(s): FAM6A
The DIS3L2 gene is associated with autosomal recessive Perlman syndrome (MedGen UID: 162909). Additionally, the DIS3L2 gene has preliminary evidence supporting a correlation with Wilm’s tumor in individuals who carry a single pathogenic variant.

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

E
EGFR
Synonym(s): ERBB
The EGFR gene is associated with an increased risk for autosomal dominant hereditary lung cancer.

EGLN1
Synonym(s): C1orf12
The EGLN1 gene has preliminary evidence supporting a correlation with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes (MedGen UID: 313270).

ENG
Synonym(s): ORW1, ORW
The ENG gene is associated with autosomal dominant hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 52657) and hereditary pulmonary arterial hypertension (PAH) (MedGen UID: 57749). Additionally, the ENG gene has preliminary evidence supporting a correlation with autosomal dominant juvenile polyposis syndrome (JPS) (PMID: 16287957, 23399955).

EPCAM
Synonym(s): M4S1, MIC18, TACSTD1
Inactivation of MSH2 through deletions at the 3’ end of the EPCAM gene are known to cause autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer, or HNPCC) (MedGen UID: 40399; PMID: 23938213, 23264089, 19455606). EPCAM is also associated with autosomal recessive congenital tufting enteropathy (CTE) (MedGen UID: 413031; PMID: 18572020, 21315192).

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

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

F
FAM175A
Synonym(s): CCDC98
The FAM175A gene has preliminary evidence supporting a correlation with breast cancer.

FANCA
Synonym(s): FACA, FANCH
The FANCA gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 483333).

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

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

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

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

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

FANCG
Synonym(s): XRCC9
The FANCG gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 433393).

FANCI
Synonym(s): KIAA1794
The FANCI gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 323016).

FANCL
Synonym(s): PHF9
The FANCL gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 433302).

FANCM
Synonym(s): KIAA1596
The FANCM gene is associated with autosomal recessive Fanconi anemia, type M (MedGen UID: 431730).

FH
The FH gene is associated with autosomal dominant hereditary leiomyomatosis and renal cell cancer (HLRCC) (MedGen UID: 353771) and autosomal recessive fumarase deficiency (MedGen UID: 87458). Additionally, the FH gene has preliminary evidence supporting a correlation with hereditary paraganglioma-pheochromocytoma (PGL/PCC).

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

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

GATA1
Synonym(s): GF1
The GATA1 gene is associated with X-linked GATA1-related cytopenia (MedGen UID: 335283) and X-linked Diamond-Blackfan anemia (MedGen UID: 266045).

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

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

GREM1
Synonym(s): CKTSF1B1, CRAC1
The GREM1 gene is associated with autosomal dominant hereditary mixed polyposis syndrome (HMPS) in individuals who carry a duplication spanning the 3’ end of the adjacent SCG5 gene and a region upstream of the GREM1 locus (MedGen UID: 430218, PMID: 22561515).

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

HRAS
Synonym(s): HRAS1
The HRAS gene is associated with autosomal dominant Costello syndrome (MedGen UID: 108454). Other HRAS-related conditions have been reported.

I
J
K
KIF1B
Synonym(s): CMT2A, CMT2
The KIF1B gene has preliminary evidence supporting a correlation with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes (MedGen UID: 313270).

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

KRAS
Synonym(s): KRAS2
The KRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 349931) and cardiofaciocutaneous (CFC) syndrome (MedGen UID: 501102). Other KRAS-related conditions have been reported.

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

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

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

MEN1
The MEN1 gene is associated with autosomal dominant multiple endocrine neoplasia type 1 (MEN1) syndrome (MedGen UID: 9957) and familial isolated hyperparathyroidism (FIHP) (MedGen UID: 830876, OMIM: 145000).

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

MITF
Synonym(s): WS2A, WS2
The MITF gene is associated with an increased risk for autosomal dominant cutaneous malignant melanoma (MedGen UID: 463554).

MLH1
Synonym(s): COCA2
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 has preliminary evidence supporting a correlation with autosomal dominant Lynch syndrome.

MRE11A
Synonym(s): MRE11
The MRE11A gene is associated with autosomal recessive ataxia-telangiectasia-like disorder (ATLD) (MedGen UID: 348929). There is preliminary evidence suggesting a phenotypic overlap between ATLD and autosomal recessive Joubert syndrome (PMID: 22863007). Additionally, the MRE11A gene has preliminary evidence supporting a correlation with autosomal dominant breast cancer in individuals who carry a single pathogenic variant.

MSH2
Synonym(s): COCA1
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).

MSH6
Synonym(s): GTBP
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
Synonym(s): MYH
The MUTYH gene is associated with autosomal recessive MUTYH-associated polyposis (MAP) (MedGen UID: 332993). Additionally, evidence of varying degrees suggests a possible association between the MUTYH gene and several cancer types.

N
NBN
Synonym(s): NBS, NBS1
The NBN gene is associated with an increased risk for autosomal dominant breast cancer in individuals who carry a single pathogenic NBN variant (PMID: 21514219, 16770759). Additionally, the NBN gene is associated with autosomal recessive Nijmegen breakage syndrome (NBS) (MedGen UID: 140771).

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

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

NHP2
Synonym(s): NOLA2
The NHP2 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 462791).

NOP10
Synonym(s): NOLA3
The NOP10 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 341705).

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

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

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

PHOX2B
Synonym(s): PMX2B
The PHOX2B gene is associated with autosomal dominant congenital central hypoventilation (MedGen UID: 347052), Hirschsprung disease, and/or tumors of the sympathetic nervous system.

PIK3CA
The PIK3CA gene has preliminary evidence supporting a correlation with autosomal dominant Cowden syndrome and Cowden-like syndrome. Other PIK3CA-related conditions have been reported (OMIM: 171834).

PMS2
Synonym(s): PMSL2
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
Synonym(s): POLD
The POLD1 gene is associated with an increased risk for autosomal dominant colonic adenomatous polyps and colon cancer (PMID: 24509466), and autosomal dominant mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome (MedGen UID: 811623).

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

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

PRKAR1A
Synonym(s): PRKAR1, TSE1
The PRKAR1A gene is associated with autosomal dominant Carney complex (MedGen UID: 388559).

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

PTCH1
Synonym(s): BCNS, HPE7, NBCCS, PTC, PTC1, PTCH, PTCH11
The PTCH1 gene is associated with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome (MedGen UID: 2554). Additionally, the PTCH1 gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (HPE) (MedGen: 372134).

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

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

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

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

RAD51D
Synonym(s): RAD51L3
The RAD51D gene is associated with an increased risk for autosomal dominant ovarian cancer and possibly breast cancer in individuals who carry a single pathogenic RAD51D variant (PMID: 21822267, 25445424).

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

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

RET
Synonym(s): HSCR1, MEN2A, MTC1, MEN2B
The RET gene is associated with autosomal dominant multiple endocrine neoplasia (MEN) type 2 (MEN2) syndrome (MedGen UID: 9958) and nonsyndromic Hirschsprung disease (MedGen UID: 419188).

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

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

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).

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).

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

RUNX1
Synonym(s): AML1, CBFA2
The RUNX1 gene is associated with autosomal dominant familial platelet disorder with associated myeloid malignancy (MedGen UID: 321945).

S
SDHA
Synonym(s): SDH2
The SDHA gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 481622), gastrointestinal stromal tumors (GIST) (PMID: 21505157, 22974104, 23060355), and autosomal recessive mitochondrial complex II deficiency with or without cardiomyopathy (MedGen UID: 344401).

SDHAF2
Synonym(s): PGL2
The SDHAF2 gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes (MedGen UID: 313270).

SDHB
Synonym(s): SDH1 SDH
The SDHB gene is associated with autosomal dominant gastrointestinal stromal tumors (GIST) (MedGen UID: 116049), paragangliomas (PGL) (MedGen UID: 349380), pheochromocytomas (PCC) (MedGen UID: 18419), renal cancer, and autosomal recessive mitochondrial complex II deficiency. Other SDHB-related conditions have been reported (OMIM: 185470).

SDHC
Synonym(s): PGL3
The SDHC gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes (MedGen UID: 313270) and gastrointestinal stromal tumors (GIST) (MedGen UID: 116049).

SDHD
Synonym(s): PGL, PGL1
The SDHD gene is associated with autosomal dominant gastrointestinal stromal tumors (GIST), paragangliomas (PGL) (MedGen UID: 358258), and pheochromocytomas (PCC) (MedGen UID: 18419). Additionally, the SDHD has preliminary evidence supporting a correlation with Cowden and Cowden-like syndromes.
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SLX4
Synonym(s): BTBD12
The SLX4 gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 450103).

SMAD4
Synonym(s): MADH4
The SMAD4 gene is associated with autosomal dominant juvenile polyposis syndrome (JPS) (MedGen UID: 87518) and hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 331400).

SMARCA4
Synonym(s): SNF2L4
The SMARCA4 gene is associated with an increased risk of autosomal dominant small-cell carcinoma of the ovary, hypercalcemic type. Additionally, the SMARCA4 gene has preliminary evidence supporting a correlation with rhabdoid tumor predisposition syndrome type 2 (RTPS2) (MedGen UID: 413749).
ADD TO ORDER
SMARCB1
Synonym(s): SNF5L1
The SMARCB1 gene is associated with autosomal dominant rhabdoid tumor predisposition syndrome 1 (RTPS1) (MedGen UID: 322892) and schwannomatosis (MedGen UID: 234775).

SMARCE1
The SMARCE1 gene has evidence supporting a correlation with autosomal dominant familial meningioma (MedGen UID: 232281) and Coffin-Siris syndrome.

SPINK1
The SPINK1 gene is associated with both autosomal dominant and autosomal recessive predisposition to hereditary pancreatitis (MedGen UID: 116056). Chronic pancreatitis is a risk factor for pancreatic cancer.

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

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

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

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

TERT
The TERT gene is associated with both autosomal recessive and autosomal dominant dyskeratosis congenita (MedGen UID: 462793). Additionally, there is preliminary evidence supporting a correlation with susceptibility to melanoma.

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

TMEM127
The TMEM127 gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes (MedGen UID: 313270).

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

TSC1
Synonym(s): TSC
The TSC1 gene is associated with autosomal dominant tuberous sclerosis complex (TSC) (MedGen UID: 344288).
ADD TO ORDER
TSC2
Synonym(s): TSC4
The TCS2 gene is associated with autosomal dominant tuberous sclerosis complex (TSC) (MedGen UID: 348170).

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

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

X
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 and autosomal recessive Fanconi anemia.

Published by

connie dello buono

Health educator, author and enterpreneur motherhealth@gmail.com or conniedbuono@gmail.com ; cell 408-854-1883 Helping families in the bay area by providing compassionate and live-in caregivers for homebound bay area seniors. Blogs at www.clubalthea.com Currently writing a self help and self cure ebook to help transform others in their journey to wellness, Healing within, transform inside and out. This is a compilation of topics Connie answered at quora.com and posts in this site.

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