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Bardet Biedl syndrome

Gene: TRIM32

Red List (low evidence)
TRIM32 (tripartite motif containing 32)
EnsemblGeneIds (GRCh38): ENSG00000119401
EnsemblGeneIds (GRCh37): ENSG00000119401
OMIM: 602290, Gene2Phenotype
TRIM32 is in 20 panels

4 reviews

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Bardet-Biedl syndrome 11 615988; Muscular dystrophy, limb-girdle, autosomal recessive 8 254110

Publications

Created: 15 Mar 2019, 1:24 p.m.

Panel version: 0.11

Alice Gardham (Genomics England)

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

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.446

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.
Created: 17 Dec 2015, 1:40 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version Imported from "Bardet-Biedl Syndrome" panel version 0.5

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

Created: 14 Oct 2015, 9:36 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version Imported from "Bardet-Biedl Syndrome" panel version 0

History Filter Activity

15 Mar 2019, Gel status: 1

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TRIM32. Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110; ?Bardet-Biedl syndrome 11, 615988 for gene: TRIM32

19 Feb 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: TRIM32 was added gene: TRIM32 was added to Bardet Biedl syndrome. Sources: Expert Review Red Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM32 were set to 16606853; 11822024 Phenotypes for gene: TRIM32 were set to ?Bardet-Biedl syndrome 11, 615988