Rare multisystem ciliopathy disorders
Gene: TRIM32EnsemblGeneIds (GRCh38): ENSG00000119401
EnsemblGeneIds (GRCh37): ENSG00000119401
OMIM: 602290, Gene2Phenotype
TRIM32 is in 20 panels
3 reviews
Alice Gardham (Genomics England)
Comment on list classification: Red on BBS panelCreated: 25 Jan 2017, 10:57 a.m.
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
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Muscular dystrophy, limb-girdle, type 2H, 254110
- ?Bardet-Biedl syndrome 11, 615988
- OMIM
- 602290
- Clinvar variants
- Variants in TRIM32
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Intellectual disability
- Severe early-onset obesity
- Retinal disorders
- Skeletal ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Arthrogryposis
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set publications
Alice Gardham (Genomics England)Publications for TRIM32 were set to 16606853; 11822024
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)TRIM32 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)TRIM32 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Upload gene information
Ellen McDonagh (Genomics England Curator)TRIM32 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H, 254110;?Bardet-Biedl syndrome 11, 615988
Added New Source
Ellen McDonagh (Genomics England Curator)TRIM32 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)TRIM32 was created by ellenmcdonagh