Limb disordersGene: FAM92A
Comment on list classification: Promoted from red to amber. 1 case plus a mouse knockout showing a similar phenotype.
Created: 7 Aug 2019, 3:38 p.m. | Last Modified: 7 Aug 2019, 3:38 p.m.
Panel Version: 1.53
Provisionally associated with ?Polydactyly, postaxial, type A9 (#618219) in OMIM.
PMID: 30395363 - Schrauwen et al. 2018 - 1 case. They report a consanguineous Pakistani family with 3 children with autosomal recessive nonsyndromic postaxial polydactyly type A with a homozygous nonsense variant (NM_001283034.1:c.478C>T, NP_001269963.1: p.[Arg160*]) in the FAM92A gene. It was confirmed that this variant segregates with PAPA. The c.478C>T variant (rs368652620) was observed in the gnomAD database with a very low MAF in the exome data (all populations MAF=2.04×10−5, South East Asians MAF=6.55×10−5 and no homozygous individuals observed and ) and was also not present in Sanger sequence data from 186 in-house control Pakistani DNAs. In mouse studies, FAM92A is expressed in the developing mouse limb and Fam92a−/− homozygous mice also exhibit an abnormal digit morphology, including metatarsal osteomas and polysyndactyly, in addition to distinct abnormalities on the deltoid tuberosity of their humeri.
Created: 7 Aug 2019, 3:37 p.m. | Last Modified: 26 Nov 2019, 12:59 a.m.
Panel Version: 1.126
Created: 7 Aug 2019, 1:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
postaxial polydactyly type A9
Gene: fam92a has been classified as Amber List (Moderate Evidence).
gene: FAM92A was added gene: FAM92A was added to Limb disorders. Sources: Literature Mode of inheritance for gene: FAM92A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM92A were set to 30395363 Phenotypes for gene: FAM92A were set to postaxial polydactyly type A9 Review for gene: FAM92A was set to AMBER