This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- KidGen_CilioNephronop v38.1.0
- Expert Review Red
- Phenotypes
-
- Bardet-Biedl syndrome 11, MIM# 615988
- OMIM
- 602290
- Clinvar variants
- Variants in TRIM32
- Penetrance
- None
- Publications
- 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
28 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: TRIM32 was added gene: TRIM32 was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Red,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM32 were set to 16606853 Phenotypes for gene: TRIM32 were set to Bardet-Biedl syndrome 11, MIM# 615988