Structural eye disease
Gene: TRIM32EnsemblGeneIds (GRCh38): ENSG00000119401
EnsemblGeneIds (GRCh37): ENSG00000119401
OMIM: 602290, Gene2Phenotype
TRIM32 is in 20 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 11; Muscular dystrophy, limb-girdle, type 2H; 615988; 254110
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 11, 615988; Muscular dystrophy, limb-girdle, type 2H, 254110
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Bardet-Biedl syndrome 11, 615988
- Muscular dystrophy, limb-girdle, type 2H, 254110
- Eye Disorders
- OMIM
- 602290
- Clinvar variants
- Variants in TRIM32
- Penetrance
- None
- Panels with this gene
-
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Skeletal ciliopathies
- Skeletal dysplasia
- Retinal disorders
- Structural eye disease
- Intellectual disability
- Fetal anomalies
- DDG2P
- Severe early-onset obesity
- Bardet Biedl syndrome
- Arthrogryposis
- Cystic kidney disease
- Renal ciliopathies
- Limb disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS 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; Muscular dystrophy, limb-girdle, type 2H, 254110 for gene: TRIM32
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TRIM32 was added gene: TRIM32 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TRIM32 was set to Phenotypes for gene: TRIM32 were set to Eye Disorders