Select a pre-curated test, combine multiple tests, or customize your own test for each patient. Invitae’s pricing is per clinical area for initial order and re-requisition.
All the tests on this page fall into a single clinical area. If your order contains tests from multiple clinical areas, you will need to send in two sample tubes and your order will represent two billable events. Your test results will be delivered as two reports. Please contact Client Services with any questions.
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 (PS) (MedGen UID: 39008). PS is an overgrowth condition caused by postzygotic, acquired pathogenic variants in the AKT1 gene (PMID: 22876373). Features include progressive, segmental or patchy overgrowth typically affecting the skeleton, skin, adipose and central nervous system (PMID: 22876373). Because affected individuals are mosaic (that is, while the causative variant may be present in some cells, it may be absent from others), testing for PS by blood is not recommended.
Analysis of gDNA derived from skin (particularly a sample from affected tissue) has a higher detection rate than DNA from blood (PMID: 22876373). Failure to detect an AKT1 pathogenic variant does not exclude a clinical diagnosis in affected individuals due to the possibility of undetected mosaicism (PMID: 22876373).
The ALK gene is associated with autosomal dominant neuroblastoma susceptibility (MedGen UID: 414083).
The APC gene is associated with APC-associated polyposis conditions, which include gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) (MedGen UID: 798250 ), familial adenomatous polyposis (FAP) (MedGen UID: 398651), and attenuated FAP (AFAP) (MedGen UID: 436213).
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) (MedGen UID: 439).
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).
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 (MedGen UID: 87542) (PMID: 21344236, 20077502, 22006311, 16825437).
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 colorectal cancer in individuals who carry a single pathogenic variant (PMID: 12242432, 26358404, 12702560, 18210922).
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 an increased risk for autosomal dominant breast and ovarian cancer in individuals who carry a single pathogenic BRIP1 variant (PMID: 17033622, 21964575). Additionally, the BRIP1 gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 323015).
The BUB1B gene is associated with autosomal recessive mosaic variegated aneuploidy syndrome (MVA) (MedGen UID: 338026). Additionally, the BUB1B gene has preliminary evidence supporting a correlation with colon cancer.
The CASR gene is associated with autosomal dominant familial isolated hyperparathyroidism (FIHP) (PMID: 14985373), autosomal dominant hypocalcemia (ADH) (MedGen UID: 87438), benign familial hypocalciuric hypercalcemia (BFHH) (MedGen UID: 369200), and autosomal recessive neonatal severe hyperparathyroidism (NSHPT) (MedGen UID: 331326). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 18756473) and chronic pancreatitis (PMID: 14641934, 16497624).
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.
The CDH1 gene is associated with autosomal dominant hereditary diffuse gastric cancer (HDGC) syndrome (MedGen UID: 310839), lobular breast cancer (PMID: 11729114, 17545690, 25979631), and possibly an increased risk for colon cancer (PMID: 10072428).
The CDK4 gene is associated with autosomal dominant hereditary cutaneous melanoma (MedGen UID: 268851).
The CDKN1B gene is associated with autosomal dominant multiple endocrine neoplasia (MEN), type 4 (MedGen UID: 373469).
The CDKN1C gene is associated with autosomal dominant Beckwith-Wiedemann syndrome (MedGen UID: 2562). Additionally, the CDKN1C gene has preliminary evidence supporting a correlation with autosomal dominant intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGe syndrome) (MedGen UID: 337364).
The CDKN2A gene is associated with autosomal dominant hereditary melanoma-pancreatic cancer syndrome (MedGen UID: 325450).
The CEBPA gene is associated with autosomal dominant familial acute myeloid leukemia (MedGen UID: 9730).
The CEP57 gene has evidence supporting a correlation with autosomal recessive mosaic variegated aneuploidy syndrome (MedGen UID: 481473).
The CFTR gene is associated with autosomal recessive cystic fibrosis (MedGen UID: 41393) and congenital bilateral absence of the vas deferens (CBAVD) (MedGen UID: 98021). Additionally, the CFTR gene is associated with an increased risk for chronic pancreatitis (PMID: 17003641, 11729110).
The CHEK2 gene is associated with an increased risk for autosomal dominant breast, colon, thyroid and prostate cancers (PMID: 15492928, 18759107, 21807500, 21876083, 25431674).
The CTC1 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 78580).
The CTNNA1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hereditary diffuse gastric cancer (PMID: 23208944, 26182300).
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, the DIS3L2 gene has preliminary evidence supporting a correlation with autosomal dominant non-syndromic Wilms tumor (PMID: 25670083).
The DKC1 gene is associated with X-linked dyskeratosis congenita (MedGen UID: 216941).
The EGFR gene is associated with an increased risk for autosomal dominant hereditary lung cancer.
The EGLN1 gene has preliminary evidence supporting a correlation with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes (MedGen UID: 313270).
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).
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).
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).
The EZH2 gene is associated with autosomal dominant Weaver syndrome (MedGen UID: 120511).
The FAM175A gene has preliminary evidence supporting a correlation with breast cancer.
The FANCA gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 483333).
The FANCB gene is associated with X-linked Fanconi anemia (MedGen UID: 336901).
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.
The FANCD2 gene is associated with autosomal recessive Fanconi anemia, type D2 (MedGen UID: 463627).
The FANCE gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 463628).
The FANCF gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 448251).
The FANCG gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 433393).
The FANCI gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 323016).
The FANCL gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 433302).
The FANCM gene is associated with autosomal recessive Fanconi anemia, type M (MedGen UID: 431730).
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, the FH gene has preliminary evidence supporting a correlation with autosomal dominant hereditary paraganglioma-pheochromocytoma (PMID: 24334767, 25004247).
The FLCN gene is associated with autosomal dominant Birt-Hogg-Dube (BHD) syndrome (MedGen UID: 91070). Additionally, the FLCN gene has preliminary evidence supporting a correlation with colon cancer.
The GALNT12 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with 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), including Emberger syndrome (MedGen UID: 481294).
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 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).
The HRAS gene is associated with autosomal dominant Costello syndrome (MedGen UID: 108454). Other HRAS-related conditions have been reported (OMIM).
The KIF1B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes (PMID: 24694336) and autosomal dominant neuroblastoma susceptibility (PMID: 18614535, 18334619, 24469107).
The KIT gene is associated with autosomal dominant gastrointestinal stromal tumors (GIST) (MedGen UID: 116049).
The MAX gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (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 susceptibility to accelerated tumor formation (MedGen UID: 482320).
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).
The MET gene is associated with autosomal dominant hereditary papillary renal cell carcinoma (HPRCC) (MedGen UID: 766).
The MITF gene is associated with an increased risk for autosomal dominant 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 has preliminary evidence supporting a correlation with autosomal dominant Lynch syndrome.
The MRE11 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 MRE11 gene has preliminary evidence supporting a correlation with autosomal dominant breast cancer in individuals who carry a single pathogenic MRE11 variant (PMID: 14684699, 24894818).
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).
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). Additionally, evidence of varying degrees suggests a possible association between the MUTYH gene and several cancer types.
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).
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).
The NF2 gene is associated with autosomal dominant neurofibromatosis type 2 (NF2) (MedGen UID: 18014).
The NHP2 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 462791).
The NOP10 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 341705).
The NTHL1 gene is associated with autosomal recessive NTHL1-associated polyposis (MedGen UID: 902388).
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).
The PALLD gene has preliminary evidence supporting a correlation with pancreatic cancer (MedGen UID: 339739, OMIM: 606856).
The PDGFRA gene is associated with autosomal dominant gastrointestinal stromal tumors (GIST) (MedGen UID: 116049).
The PHOX2B gene is associated with autosomal dominant congenital central hypoventilation syndrome (CCHS) (MedGen UID: 347052).
The PIK3CA gene has preliminary evidence supporting a correlation with autosomal dominant Cowden syndrome and Cowden-like syndrome (PMID: 23246288, 22729224, 24497998). PIK3CA is also associated with PIK3CA-Related Overgrowth Spectrum (PROS). This spectrum encompasses a number of segmental overgrowth conditions with variable and overlapping features caused by postzygotic, acquired pathogenic variants in the PIK3CA gene (PMID: 25557259). Because affected individuals are mosaic (that is, while the causative variant may be present in some cells, it may be absent from others), testing for PROS by blood is not recommended.
Analysis of gDNA derived from skin (particularly a sample from affected tissue) has a higher detection rate than DNA from blood (PMID: 25557259). Failure to detect a PIK3CA pathogenic variant does not exclude a clinical diagnosis in affected individuals due to the possibility of undetected mosaicism (PMID: 25557259).
Conditions associated with PIK3CA-Related Overgrowth Spectrum (PROS) include:
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 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).
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).
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).
The PRKAR1A gene is associated with autosomal dominant Carney complex (CNC) (MedGen UID: 388559).
The PRSS1 gene is associated with autosomal dominant hereditary pancreatitis (Medgen UID: 116056).
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).
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).
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).
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).
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).
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).
The RB1 gene is associated with autosomal dominant retinoblastoma (MedGen UID: 20552). Additionally, evidence of varying degrees suggests a possible association between the RB1 gene and several cancer types in retinoblastoma survivors (PMID: 14996857, 22355046).
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).
The RET gene is associated with autosomal dominant multiple endocrine neoplasia type 2 (MEN2) syndrome (MedGen UID: 9958) and nonsyndromic Hirschsprung disease (MedGen UID: 419188).
The RINT1 gene has preliminary evidence supporting a correlation with breast cancer.
The RPL11 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 436451).
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 RPS7 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 390817).
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) 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).
The SDHAF2 gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 357076).
The SDHB gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 349380), gastrointestinal stromal tumors (GIST) (MedGen UID: 116049), and renal cancer (PMID: 18728283). Other SDHB-related conditions have been reported (OMIM: 185470).
The SDHC gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 340200), gastrointestinal stromal tumors (GIST) (MedGen UID: 116049), and renal cell carcinoma (PMID: 23083876).
The SDHD gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 358258) and gastrointestinal stromal tumors (GIST) (PMID: 24886695). Other SDHD-related conditions have been reported (OMIM: 602690).
The SLX4 gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 450103).
The SMAD4 gene is associated with autosomal dominant juvenile polyposis syndrome (JPS) (MedGen UID: 87518) and hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 331400).
The SMARCA4 gene is associated with an increased risk of autosomal dominant small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) (PMID: 24658002, 24658001). Additionally, the SMARCA4 gene has preliminary evidence supporting a correlation with autosomal dominant rhabdoid tumor predisposition syndrome type 2 (RTPS2) (MedGen UID: 413749).
The SMARCB1 gene is associated with autosomal dominant rhabdoid tumor predisposition syndrome 1 (RTPS1) (MedGen UID: 322892) and schwannomatosis (MedGen UID: 234775).
The SMARCE1 gene is associated with autosomal dominant familial meningioma (MedGen UID: 232281), and there is preliminary evidence supporting a correlation with autosomal dominant Coffin-Siris syndrome (PMID: 22426308, 23906836).
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 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).
The TERC gene is associated with autosomal dominant dyskeratosis congenita (MedGen UID: 338831).
The TERT gene is associated with both autosomal recessive and autosomal dominant dyskeratosis congenita (MedGen UID: 462793), and autosomal dominant idiopathic pulmonary fibrosis (IPF) (MedGen UID: 321462).
The TINF2 gene is associated with autosomal dominant dyskeratosis congenita (MedGen UID: 462795).
The TMEM127 gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (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 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 WRN gene is associated with autosomal recessive Werner syndrome (MedGen UID: 12147).
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).
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.
