This Panel is marked as Internal
Renal and urinary tract disorders
Gene: TRIM32
TRIM32 (tripartite motif containing 32)
EnsemblGeneIds (GRCh38): ENSG00000119401
EnsemblGeneIds (GRCh37): ENSG00000119401
OMIM: 602290, Gene2Phenotype
TRIM32 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000119401
EnsemblGeneIds (GRCh37): ENSG00000119401
OMIM: 602290, Gene2Phenotype
TRIM32 is in 20 panels
1 review
Miranda Durkie (Genetics)
Only 1 family identified.
Created: 26 Oct 2015, 4:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome type 11
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 602290
- Clinvar variants
- Variants in TRIM32
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Skeletal ciliopathies
- Bardet Biedl syndrome
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Arthrogryposis
- Severe early-onset obesity
- Retinal disorders
- Unexplained kidney failure in young people
- Intellectual disability
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
30 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Miranda Durkie: Only 1 family identified.
20 Dec 2018, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Ciliopathy genes associated with cystic kidney disease for gene: TRIM32
20 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TRIM32 was added gene: TRIM32 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: TRIM32 was set to Unknown Phenotypes for gene: TRIM32 were set to Ciliopathy genes associated with cystic kidney disease