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Limb disorders

Gene: FAM92A

Amber List (moderate evidence)

FAM92A (family with sequence similarity 92 member A)
EnsemblGeneIds (GRCh38): ENSG00000188343
EnsemblGeneIds (GRCh37): ENSG00000188343
OMIM: 617273, Gene2Phenotype
FAM92A is in 1 panel

1 review

Eleanor Williams (Genomics England Curator)

I don't know

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
Sources: Literature
Created: 7 Aug 2019, 1:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

postaxial polydactyly type A9



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Literature
  • postaxial polydactyly type A9
Clinvar variants
Variants in FAM92A
Panels with this gene

History Filter Activity

7 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: fam92a has been classified as Amber List (Moderate Evidence).

7 Aug 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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