The American College of Medical Genetics and Genomics (ACMG) has compiled a list of SF genes, for which specific mutations are known to be causative of disorders with defined phenotypes that are clinically actionable by an accepted intervention. The ACMG recommends that variants detected in any of these genes by a method such as whole exome or whole genome sequencing be reported, as they are of medical relevance and could be used in the future to inform clinical treatment.
The NIGMS Repository has many samples bearing characterized mutations within the genes on this list. These samples serve as a resource to investigators studying these common variants in clinically significant genes. Please use the table below to browse genes and NIGMS samples of interest.
The NIGMS Repository is seeking to expand their available resources, and we are looking to include in our collections samples that have characterized mutations in the genes in this list. If you or your collaborators would be interested in making biospecimens with mutations in one or more ACMG SF Genes available to the research community, please contact us at NIGMS@coriell.org.
* indicates that samples are not currently available from the catalog
|
Disease Phenotype |
GeneReviews PMID for Phenotype |
Gene and OMIM Number |
Available Samples with Characterized Mutation Data |
Genetic Variants in 1000 Genomes Project Samples |
| Hereditary breast and ovarian cancer | 20301425 | BRCA1 113705 |
Samples | Browse |
|
BRCA2 |
Samples | Browse | ||
|
PALB2 |
Samples | Browse | ||
| Li-Fraumeni syndrome | 20301488 | TP53 191170 |
Browse | |
| Peutz-Jeghers syndrome | 20301443 |
STK11 |
Browse | |
| Lynch syndrome | 20301390 | MLH1 120436 |
Browse | |
| MSH2 609309 |
Browse | |||
| MSH6 600678 |
Browse | |||
| PMS2 600259 |
Samples | Browse | ||
| Familial adenomatous polyposis | 20301519 | APC 611731 |
Samples | Browse |
| MYH-associated polyposis; adenomas, multiple colorectal, FAP type 2; colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas | 23035301 | MUTYH 604933 |
Browse | |
| Juvenile polyposis | 20301642 | BMPR1A 601299 |
Browse | |
| SMAD4 600993 |
Samples | Browse | ||
| Von Hippel–Lindau syndrome | 20301636 | VHL 608537 |
Samples* | Browse |
| Multiple endocrine neoplasia type 1 | 20301710 | MEN1 613733 |
Samples | Browse |
| Multiple endocrine neoplasia type 2 | 20301434 | RET 164761 |
Samples | Browse |
| Familial medullary thyroid cancer | 20301434 | RET 164761 |
Samples | Browse |
| PTEN hamartoma tumor syndrome | 20301661 | PTEN 601728 |
Samples | Browse |
| Retinoblastoma | 20301625 | RB1 614041 |
Samples* | Browse |
| Hereditary paraganglioma-pheochromocytoma syndrome | 20301715 | SDHD 602690 |
Browse | |
| SDHAF2 613019 |
Browse | |||
| SDHC 602413 |
Browse | |||
| SDHB 185470 |
Browse | |||
| MAX 154950 |
Browse | |||
| TMEM127 613403 |
Browse | |||
| Tuberous sclerosis complex | 20301399 |
TSC1 |
Samples | Browse |
|
TSC2 |
Samples | Browse | ||
| WT1-related Wilms tumor | 20301471 | WT1 607102 |
Samples* | Browse |
| Neurofibromatosis type 2 | 20301380 | NF2 607379 |
Samples | Browse |
| Ehlers-Danlos syndrome, vascular type | 20301667 |
COL3A1 |
Samples | Browse |
| Marfan syndrome, Loeys-Dietz syndromes, and familial thoracic aortic aneurysms and dissections |
FBN1 |
Samples | Browse | |
| TGFBR1 190181 |
Samples* | Browse | ||
| TGFBR2 190182 |
Samples* | Browse | ||
| SMAD3 603109 |
Browse | |||
| ACTA2 102620 |
Browse | |||
| MYH11 160745 |
Browse | |||
| Hypertrophic cardiomyopathy, dilated cardiomyopathy | 20301725 |
MYBPC3 |
Samples | Browse |
|
MYH7 |
Samples | Browse | ||
|
TNNT2 |
Browse | |||
|
TNNI3 |
Browse | |||
|
TPM1 |
Browse | |||
|
MYL3 |
Browse | |||
|
ACTC1 |
Browse | |||
|
PRKAG2 |
Browse | |||
|
GLA |
Samples | Browse | ||
|
MYL2 |
Samples | Browse | ||
| LMNA 150330 |
Samples | Browse | ||
| FLNC 102565 |
Samples | Browse | ||
| TTN 188840 |
Samples | Browse | ||
|
BAG3 |
Browse | |||
|
DES |
Samples | Browse | ||
|
RBM20 |
Browse | |||
|
TNNC1 |
Browse | |||
| Catecholaminergic polymorphic ventricular tachycardia | 20301466 | RYR2 180902 |
Browse | |
| CASQ2 114251 |
Browse | |||
| TRDN 603283 |
Browse | |||
| Arrhythmogenic right ventricular cardiomyopathy | 20301310 | PKP2 602861 |
Browse | |
| DSP 125647 |
Samples | Browse | ||
| DSC2 125645 |
Browse | |||
| TMEM43 612048 |
Browse | |||
| DSG2 125671 |
Browse | |||
| Romano-Ward long-QT syndrome types 1, 2, 3, 14, 15 and 16, Brugada syndrome | 20301308 | KCNQ1 607542 |
Browse | |
| KCNH2 152427 |
Samples | Browse | ||
| SCN5A 600163 |
Samples | Browse | ||
|
CALM1 |
Browse | |||
|
CALM2 |
Browse | |||
|
CALM3 |
Browse | |||
| Familial hypercholesterolemia | 24404629 | LDLR 606945 |
Samples | Browse |
| APOB 107730 |
Samples* | Browse | ||
| PCSK9 607786 |
Browse | |||
| Wilson disease | 20301685 | ATP7B 606882 |
Samples | Browse |
| Ornithine transcarbamylase deficiency | 24006547 | OTC 300461 |
Samples | Browse |
| Biotinidase deficiency | 20301497 | BTD 609019 |
Browse | |
| Pompe Disease | 20301438 | GAA 606800 |
Samples | Browse |
| Malignant hyperthermia susceptibility | 20301325 | RYR1 180901 |
Samples | Browse |
| CACNA1S 114208 |
Samples | Browse | ||
| Hereditary hemochromatosis | 20301613 |
HFE |
Samples | Browse |
| Hereditary hemorrhagic telangiectasia | 20301525 |
ACVRL1 |
Browse | |
|
ENG |
Samples | Browse | ||
| Maturity-onset diabetes of the young | 29792621 |
HNF1A |
Browse | |
| RPE65-related retinopathy | 31725251 |
RPE65 |
Browse | |
| Hereditary TTR amyloidosis | 33188616 |
TTR |
Samples | Browse |
Additional Resources:
https://pubmed.ncbi.nlm.nih.gov/37347242/
https://www.gimjournal.org/article/S1098-3600(23)00879-1/fulltext
https://pubmed.ncbi.nlm.nih.gov/35802134/
https://www.gimjournal.org/article/S1098-3600(22)00723-7/fulltext
*Note: this page has been updated to reflect ACMG SF v3.2 which included 8 additional genes to list of 73 genes from v3.0 (BAG3, DES, RBM20, TNNC1, TTR, CALM1, CALM2 and CALM3). This is an up-to-date version of the ACMG SF Genes webpage.
