Cystic kidney disease
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
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
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 602290
- Clinvar variants
- Variants in TRIM32
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal ciliopathies
- Renal ciliopathies
- Intellectual disability
- Ophthalmological ciliopathies
- Limb disorders
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Skeletal dysplasia
- Unexplained kidney failure in young people
- Severe early-onset obesity
- Congenital myopathy
- Rare multisystem ciliopathy disorders
- Structural eye disease
- Bardet Biedl syndrome
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Cystic kidney disease
- Retinal disorders
- Fetal anomalies
- Arthrogryposis
History Filter Activity
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
15 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TRIM32 was added to Cystic kidney diseasepanel. Sources: Expert