This Panel is marked as Retired
Bardet-Biedl Syndrome
Gene: TRIM32
TRIM32 (tripartite motif containing 32)
EnsemblGeneIds (GRCh38): ENSG00000119401
EnsemblGeneIds (GRCh37): ENSG00000119401
OMIM: 602290, Gene2Phenotype
TRIM32 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000119401
EnsemblGeneIds (GRCh37): ENSG00000119401
OMIM: 602290, Gene2Phenotype
TRIM32 is in 21 panels
2 reviews
Caroline Wright (Genomics England Curator)
Comment when marking as ready: One BBS patient reportedCreated: 17 Dec 2015, 2:12 p.m.
Comment on list classification: Only 1 BBS patient reportedCreated: 17 Dec 2015, 1:40 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Bardet‐Biedl syndrome 11
- 254110
- OMIM
- 602290
- Clinvar variants
- Variants in TRIM32
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Intellectual disability
- Retinal disorders
- Limb disorders
- Skeletal ciliopathies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Renal ciliopathies
- Unexplained kidney failure in young people
- Severe early-onset obesity
- Fetal anomalies
- Congenital myopathy
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Skeletal dysplasia
- Bardet Biedl syndrome
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Cystic kidney disease
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