Limb disordersGene: TRIM32
Although variants in this gene are more commonly associated with limb girdle muscular dystrophy, there is a single report of a pathogenic variant in TRIM32 that was identified and associated with Bardet-Biedl syndrome 11, a homozygous missense variant p.Pro130Ser was found in affected individuals in a single small consanguineous Israeli Bedouin, Chiang et al., 2006 (PMID: 16606858), linkage studies failed to identify a disease locus. There is currently not enough evidence to support gene-disease association to limb disorder.
Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Polydactyly; Bardet-Biedl syndrome 11, 615988
Louise Daugherty: Although variants in this gene
Gene: trim32 has been classified as Red List (Low Evidence).
Source Expert Review Red was added to TRIM32. Mode of inheritance for gene TRIM32 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome 11, 615988; Polydactyly for gene: TRIM32 Publications for gene TRIM32 were changed from to 20301537; 16606853
TRIM32 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
TRIM32 was created by Ellen McDonagh