Abstract
REFERENCES
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Table 1.
Table 2.
Phenotype | MIM-disorder | PMID-Gene Reviews entry | Typical age of onset | Gene | MIM-gene | Inheritancea | Variantsa to reportb |
---|---|---|---|---|---|---|---|
Hereditary breast and ovarian cancer | 604370 | 20301425 | Adult | BRCA1 | 113705 | AD | KP and EP |
612555 | BRCA2 | 600185 | |||||
Li-Fraumeni syndrome | 151623 | 20301488 | Child/adult | TP53 | 191170 | AD | KP and EP |
Peutz-Jeghers syndrome | 175200 | 20301443 | Child/adult | STK11 | 602216 | AD | KP and EP |
Lynch syndrome | 120435 | 20301390 | Adult | MLH1 | 120436 | AD | KP and EP |
MSH2 | 609309 | ||||||
MSH6 | 600678 | ||||||
PMS2 | 600259 | ||||||
Familial adenomatous polyposis | 175100 | 20301519 | Child/adult | APC | 611731 | AD | KP and EP |
MYH-associated polyposis; adeno-mas, multiple colorectal, FA type 2; colorectal adenomatous Polyposis, autosomal recessive, with pilomatricomas | 608456 | 23035301 | Adult | MUTYH | 604933 | ARC | KP and EP |
132600 | |||||||
Von Hippel-Lindau syndrome | 193300 | 20301636 | Child/adult | VHL | 608537 | AD | KP and EP |
Multiple endocrine neoplasia type1 | 131100 | 20301710 | Child/adult | MEN1 | 613733 | AD | KP and EP |
Multiple endocrine neoplasia type2 | 171400 | 20301434 | Child/adult | RET | 164761 | AD | KP |
162300 | |||||||
Familial medullary thyroid cancerd | 1552401 | 20301434 | Child/adult | RET | 164761 | AD | KP |
PTENhamartoma tumor syndrome | 153480 | 20301661 | Child/adult | PTEN | 601728 | AD | KP and EP |
Retinoblastoma | 180200 | 20301625 | Child | RB1 | 614041 | AD | KP and EP |
Hereditary paraganglioma-pheochromocytoma syndrome | 168000 (PGL1) | 20301715 | Child/adult | SDHD | 602690 | AD | KP and EP |
601650 (PGL2) | SDHAF2 | 613019 | |||||
605373 (PGL3) | SDHC | 602413 | KP and EP | ||||
115310 (PGL4) | SDHB | 185470 | |||||
Tuberous sclerosis complex | 191100 | 20301399 | Child | TSC1 | 605284 | AD | KP and EP |
613254 | TSC2 | 191092 | |||||
WT1-related Wilms tumor | 194070 | 20301471 | Child | WT1 | 607102 | AD | KP and EP |
Neurofibromatosis type2 | 101100 | 20301380 | Child/adult | NF2 | 607379 | AD | KP and EP |
Ehlers-Danlos syndrome, vascular type | 130050 | 20301667 | Child/adult | COL3A1 | 120180 | AD | KP and EP |
Marfan syndrome, Loeys-Dietz syndromes, and familial thoracic Aortic aneurysms and dissections | 154700 | 20301510 | Child/adult | FBN1 | 134797 | AD | KP and EP |
609192 | 20301312 | TGFBR1 | 190181 | ||||
608967 | 20301299 | TGFBR1 | 190182 | ||||
610168 | SMAD3 | 603109 | |||||
ACTA2 | 102620 | ||||||
MYLK | 600922 | ||||||
MYH11 | 160745 |
a Some conditions that may demonstrate semidominant inheritance (SD) have been indicated as autosomal dominant (AD) for the sake of simplicity. Others have been labeled as X-linked (XL);
b KP: known pathogenic, sequence variation is previously reported and is a recognized cause of the disorder; EP: expected pathogenic, sequence variation is previously unreported and is of the type that is expected to cause the disorder. Note: The recommendation to not repot expected pathogenic variants for some genes is due to the recognition that truncating variants, the primary type of expected pathogenic variants, are not an established cause of some diseases on the list.
c Although carriers may have modestly increased risk, we recommend searching only for individuals with biallelic mutations;
d On the basis of evidence presented to the Working Group after the online posting of these recommendations, the decision was made to remove one gene, NTRK1, from the recommended list. Abbreviations: MIM, Mendelion Inheritance in Man; PMID, PuMed identifier; MYH, mutY homolog; FAP, familial adenomatous polyposis; WT1, Wilms tumor1
Table 2.
Phenotype | MIM-disorder | PMID-Gene Reviewsentry | Typical age y of onset | Gene | MIM-gene | Inheritance a | Variants to reportb |
---|---|---|---|---|---|---|---|
Hypertrophic cardiomyopathy, dilated cardiomyopathy | 115197 | 20301725 | Child/adult | MYBPC3 | 600958 | AD | KP and EP |
192600 | MYH7 | 160760 | KP | ||||
601494 | TNNT2 | 191045 | KP and EP | ||||
613690 | TNNI3 | 191044 | KP | ||||
115196 | TPM1 | 191010 | |||||
608751 | MYL3 | 160790 | |||||
612098 | ACTC1 | 102540 | |||||
600858 | PRKAG2 | 602743 | |||||
301500 | GLA | 300644 | XL | KP and EP (hemi, het, hom) | |||
608758 | |||||||
115200 | |||||||
MYL2 | 160781 | AD | KP | ||||
LMNA | 150330 | KP and EP | |||||
Catecholaminergic polymorphic ventricular tachycardia | 604772 | RYR2 | 180902 | AD | KP | ||
Arrhythmogenic right-ventricular cardiomyopathy | 609040 | 20301310 | Child/adult | PKP2 | 602861 | AD | KP and EP |
604400 | DSP | 125647 | |||||
610476 | DSC2 | 125645 | |||||
607450 | TMEM43 | 612048 | KP | ||||
610193 | DSG2 | 125671 | KP and EP | ||||
Romano-Ward long QT syndrome Types 1, 2, and 3, Brugada syndrome | 192500 | 20301308 | Child/adult | KCNQ1 | 607542 | AD | KP and EP |
613688 | KCNH2 | 152427 | |||||
603830 | SCN5A | 600163 | |||||
601144 | |||||||
Familial hypercholesterolemia | 143890 | No | Child/adult | LDLR | 606945 | SD | KP and EP |
603776 | Gene reviews | APOB | 107730 | SD | KP | ||
Entry | PCSK9 | 607786 | AD | ||||
Malignant hyperthermia susceptibility | 145600 | 20301325 | Child/adult | RYR1 | 180901 | AD | KP |
CACNA1S | 114208 |
a Some conditions that may demonstrate semidominant inheritance (SD) have been indicated as autosomal dominant (AD) for the sake of simplicity. Others have been labeled as X-linked (XL);
b KP: known pathogenic, sequence variation is previously reported and is a recognized cause of the disorder; EP: expected pathogenic, sequence variation is previously unreported and is of the type that is expected to cause the disorder. Note: The recommendation to not report expected pathogenic variants for some genes is due to the recognition that truncating variants, the primary type of expected pathogenic variants, are not an established cause of some diseases on the list.