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  2. Limb-Girdle Muscular Dystrophy and Distal Myopathy
  3. TRIM32
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Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: TRIM32

Green List (high evidence)
TRIM32 (tripartite motif containing 32)
EnsemblGeneIds (GRCh38): ENSG00000119401
EnsemblGeneIds (GRCh37): ENSG00000119401
OMIM: 602290, Gene2Phenotype
TRIM32 is in 16 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Ataxia is not a reported feature associated with this gene.
Sources: Expert list
Created: 17 Jan 2020, 12:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110; ?Bardet-Biedl syndrome 11, 615988

Created: 17 Jan 2020, 12:26 a.m.

Panel version: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.41

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

>3 unrelated cases with myopathy, adult onset reported
Created: 7 Apr 2022, 8:30 a.m. | Last Modified: 7 Apr 2022, 8:30 a.m.
Panel Version: 0.12771
BBS: Single family reported in 2006. LIMITED.
Created: 3 Jan 2020, 8:33 a.m. | Last Modified: 7 Apr 2022, 8:30 a.m.
Panel Version: 0.12771

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 11, MIM# 615988; Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110

Publications

Created: 3 Jan 2020, 8:33 a.m.
Last Modified: 7 Apr 2022, 8:30 a.m.
Panel version: Imported from Mendeliome panel version 0.12771

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2H, 254110
OMIM
602290
Clinvar variants
Variants in TRIM32
Penetrance
None
Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: TRIM32 was added gene: TRIM32 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H, 254110