Renal ciliopathies

Gene: TRIM32

Red List (low evidence)

TRIM32 (tripartite motif containing 32)
EnsemblGeneIds (GRCh38): ENSG00000119401
EnsemblGeneIds (GRCh37): ENSG00000119401
OMIM: 602290, Gene2Phenotype
TRIM32 is in 24 panels

3 reviews

Alice Gardham (Genomics England)

Comment on list classification: Red on BBS panel
Created: 25 Jan 2017, 10:57 a.m.

Caroline Wright (Genomics England Curator)

Comment when marking as ready: One BBS patient reported
Created: 17 Dec 2015, 2:12 p.m.
Comment on list classification: Only 1 BBS patient reported
Created: 17 Dec 2015, 1:40 p.m.

Beth Hoskins (Great Ormond Street Hospital)

Red List (low evidence)

Mutations in this gene are more commonly associated with limb girdle muscular dystrophy.
Created: 14 Oct 2015, 9:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
254110

Publications

History Filter Activity

10 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: TRIM32 was added gene: TRIM32 was added to Renal ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,Expert Review Red,UKGTN Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM32 were set to 11822024; 16606853 Phenotypes for gene: TRIM32 were set to ?Bardet-Biedl syndrome 11, 615988; Muscular dystrophy, limb-girdle, type 2H, 254110