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Limb disorders

Gene: TRIM32

Red List (low evidence)

TRIM32 (tripartite motif containing 32)
EnsemblGeneIds (GRCh38): ENSG00000119401
EnsemblGeneIds (GRCh37): ENSG00000119401
OMIM: 602290, Gene2Phenotype
TRIM32 is in 23 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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

Phenotypes
Polydactyly; Bardet-Biedl syndrome 11, 615988

Publications

History Filter Activity

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Louise Daugherty: Although variants in this gene

7 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: trim32 has been classified as Red List (Low Evidence).

7 Nov 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

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

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TRIM32 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

TRIM32 was created by Ellen McDonagh