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  3. ABHD5
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Rhabdomyolysis and Metabolic Myopathy

Gene: ABHD5

Green List (high evidence)
ABHD5 (abhydrolase domain containing 5)
EnsemblGeneIds (GRCh38): ENSG00000011198
EnsemblGeneIds (GRCh37): ENSG00000011198
OMIM: 604780, Gene2Phenotype
ABHD5 is in 9 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

A disorder of glycerolipid metabolism. Myopathy, identified through raised CK levels and muscle biopsy, was a commonly observed finding in 59% (86/147) cases with ABHD5 deficiency. The myopathy tends to generally be a slowly progressive muscle weakness and rarely culminates in cardiomyopathy.
Sources: Expert list
Created: 2 Jun 2023, 12:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dorfman-Chanarin disease MONDO:0010155

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Jun 2023, 12:13 a.m.

Panel version: 0.169

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; non-bullous congenital ichthyosiform erithroderma

Publications

Created: 31 Jan 2020, 9:10 a.m.
Last Modified: 31 Jan 2020, 9:10 a.m.
Panel version: Imported from Mendeliome panel version 0.1083

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dorfman-Chanarin disease MONDO:0010155
OMIM
604780
Clinvar variants
Variants in ABHD5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: abhd5 has been classified as Green List (High Evidence).

2 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: abhd5 has been classified as Green List (High Evidence).

2 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ABHD5 was added gene: ABHD5 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD5 were set to 31883530 Phenotypes for gene: ABHD5 were set to Dorfman-Chanarin disease MONDO:0010155 Review for gene: ABHD5 was set to GREEN gene: ABHD5 was marked as current diagnostic