ClinGen Dosage Sensitivity Curation Page

Curation of the ACMG 59 Genes

OMIM - disorder GeneReviews Typical age of onset Gene OMIM - gene Haploinsufficiency score Triplosensitivity score
Hereditary breast and ovarian cancer
604370 20301425 Adult BRCA1 113705 3 0
612555 BRCA2 600185 3 0
Li-Fraumeni syndrome
151623 20301488 Child/adult TP53 191170 3 0
Peutz-Jeghers syndrome
175200 20301443 Child/adult STK11 602216 3 0
Lynch syndrome
120435 20301390 Adult MLH1 120436 3 0
MSH2 609309 3 0
MSH6 600678 3 0
PMS2 600259 3 0
Familial adenomatous polyposis
175100 20301519 Child/adult APC 611731 3 0
MYH-associated polyposis; adenomas, multiple colorectal, FAP type 2; colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
608456,132600 23035301 Adult MUTYH 604933 30: Gene associated with autosomal recessive phenotype 0
Juvenile polyposis
174900 20301642 Child/adult BMPR1A 612242 3 0
SMAD4 600993 3 0
Von Hippel-Lindau syndrome
193300 20301636 Child/adult VHL 608537 3 0
Multiple endocrine neoplasia type 1
131100 20301710 Child/adult MEN1 613733 3 0
Multiple endocrine neoplasia type 2
171400,162300 20301434 Child/adult RET 164761 3 0
Familial medullary thyroid cancer
171400,162300,1552401 20301434 Child/adult RET 164761 3 0
PTEN hamartoma tumor syndrome
153480 20301661 Child/adult PTEN 601728 3 0
Retinoblastoma
180200 20301625 Child RB1 614041 3 0
Hereditary paraganglioma-pheochromocytoma syndrome
168000 20301715 Child/adult SDHD 602690 3 0
601650 SDHAF2 613019 2 0
605373 SDHC 602413 3 0
115310 SDHB 185470 3 0
Tuberous sclerosis complex
191100 20301399 Child TSC1 605284 3 0
613254 TSC2 191092 3 0
WT1-related Wilms tumor
194070 20301471 Child WT1 607102 3 0
Neurofibromatosis type 2
101100 20301380 Child/adult NF2 607379 3 0
Ehlers-Danlos syndrome, vascular type
130050 20301667 Child/adult COL3A1 120180 3 0
Marfan syndrome, Loeys-Dietz syndromes, and familial thoracic aortic aneurysms and dissections
154700 20301510,20301312,20301299 Child/adult FBN1 134797 3 0
609192 TGFBR1 190181 2 0
608967 TGFBR2 190182 2 0
610168 SMAD3 603109 3 0
613795 ACTA2 102620 0 0
611788 MYH11 160745 0 0
Hypertrophic cardiomyopathy, dilated cardiomyopathy
115197 20301725 Child/adult MYBPC3 600958 3 0
192600 MYH7 160760 0 0
601494 TNNT2 191045 0 0
613690 TNNI3 191044 1 0
115196 TPM1 191010 0 0
608751 MYL3 160790 0 0
612098 ACTC1 102540 1 0
600858 PRKAG2 602743 0 0
301500 GLA 300644 3 0
608758 MYL2 160781 30: Gene associated with autosomal recessive phenotype 0
115200 LMNA 150330 2 0
Catecholaminergic polymorphic ventricular tachycardia
604772 RYR2 180902 0 0
Arrhythmogenic right-ventricular cardiomyopathy
609040 20301310 Child/adult PKP2 602861 3 0
604400 DSP 125647 1 0
610476 DSC2 125645 2 0
607450 TMEM43 612048 0 0
610193 DSG2 125671 1 0
Romano-Ward long QT syndrome types 1,2, and 3 Brugada syndrome
192500 20301308 Child/adult KCNQ1 607542 3 0
613688 KCNH2 152427 3 0
603830,601144 SCN5A 600163 2 0
Familial hypercholesterolemia
143890 Child/adult LDLR 606945 3 0
603776 APOB 107730 3 0
PCSK9 607786 40: Dosage sensitivity unlikely 0
Wilson disease
277900 20301685 Child ATP7B 606882 30: Gene associated with autosomal recessive phenotype 0
Ornithine transcarbamylase deficiency
311250 2406547 Newborn (male), child (female) OTC 300461 3 0
Malignant hyperthermia
145600 20301325 Child/adult RYR1 180901 0 0
CACNA1S 114208 0 0