Skeletal ciliopathies

Gene: TRIM32

No list

TRIM32 (tripartite motif containing 32)
EnsemblGeneIds (GRCh38): ENSG00000119401
EnsemblGeneIds (GRCh37): ENSG00000119401
OMIM: 602290, Gene2Phenotype
TRIM32 is in 22 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Removing from the skeletal ciliopathies panel as it is covered by the Bardet Biedl syndrome panel (panel ID: 543)
Created: 28 Nov 2019, 3:33 p.m. | Last Modified: 28 Nov 2019, 3:33 p.m.
Panel Version: 0.40

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

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: TRIM32.

28 Nov 2019, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: trim32 has been removed from the panel.

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 Skeletal 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