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

2 reviews

Caroline Wright (Genomics England Curator)

Comment when marking as ready: One BBS patient reported
17 Dec 2015, 2:12 p.m.
Comment on list classification: Only 1 BBS patient reported
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.
14 Oct 2015, 9:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
254110

Publications

History Filter Activity

1 Feb 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TRIM32 were set to Bardet‐Biedl syndrome 11; 254110

1 Feb 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TRIM32 were set to PMID: 16606853; 11822024

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

TRIM32 was added to Bardet-Biedl Syndrome panel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

TRIM32 was added to Bardet-Biedl Syndrome panel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

TRIM32 was added to Bardet-Biedl Syndrome panel. Sources: Illumina TruGenome Clinical Sequencing Services