Congenital myopathy
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
Anna Sarkozy (Great Ormond Street Hospital)
recessive variants cause LGMD, disease onset can be in early age with increase CK and excerise intolerance. This gene is in the LGMD panelCreated: 27 May 2026, 9:42 a.m. | Last Modified: 27 May 2026, 9:42 a.m.
Panel Version: 7.25
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- NHS GMS
- OMIM
- 602290
- Clinvar variants
- Variants in TRIM32
- Penetrance
- None
- Panels with this gene
-
- Ophthalmological ciliopathies
- Severe early-onset obesity
- Limb disorders
- DDG2P
- Fetal anomalies
- Congenital myopathy
- Retinal disorders
- Unexplained kidney failure in young people
- Bardet Biedl syndrome
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Cystic kidney disease
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Structural eye disease
- Skeletal dysplasia
- Skeletal ciliopathies
- Arthrogryposis
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
History Filter Activity
27 May 2026, Gel status: 0
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: trim32 has been removed from the panel.
27 May 2026, Gel status: 1
Created, Added New Source, Set mode of inheritance
Arina Puzriakova (Genomics England Curator)gene: TRIM32 was added gene: TRIM32 was added to Congenital myopathy. Sources: NHS GMS Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal