Limb disorders
Gene: TRIM32EnsemblGeneIds (GRCh38): ENSG00000119401
EnsemblGeneIds (GRCh37): ENSG00000119401
OMIM: 602290, Gene2Phenotype
TRIM32 is in 20 panels
2 reviews
Eleanor Williams (Genomics England Curator)
This gene is red on the GMS Bardet Biedl syndrome panel (v1.0).Created: 25 Nov 2019, 10:29 p.m. | Last Modified: 25 Nov 2019, 10:29 p.m.
Panel Version: 1.110
Louise Daugherty (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Bardet-Biedl syndrome 11, 615988
- Polydactyly
- OMIM
- 602290
- Clinvar variants
- Variants in TRIM32
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Fetal anomalies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Severe early-onset obesity
- Skeletal ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Arthrogryposis
- Skeletal dysplasia
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Louise Daugherty: Although variants in this gene
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: trim32 has been classified as Red List (Low Evidence).
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
Added New Source
Ellen McDonagh (Genomics England Curator)TRIM32 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)TRIM32 was created by Ellen McDonagh