Rhabdomyolysis and metabolic muscle disorders
Gene: ABHD5
Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in this panel in the next GMS review.Created: 8 Dec 2023, 7:32 p.m. | Last Modified: 8 Dec 2023, 7:32 p.m.
Panel Version: 3.44
Chanarin-Dorfman is a neutral lipid storage disorder. 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.
This gene has been associated with relevant phenotypes in both OMIM (MIM #275630) and Gene2Phenotype (with 'definitive' rating in the DD panel), and muscle weakness has been recorded as one of the features in both resources.
As myopathy is caused by metabolic deficiency, this gene should be added to this panel.
Sources: LiteratureCreated: 8 Dec 2023, 7:31 p.m. | Last Modified: 8 Dec 2023, 7:34 p.m.
Panel Version: 3.44
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chanarin-Dorfman syndrome, OMIM:275630
Publications
Gene: abhd5 has been classified as Amber List (Moderate Evidence).
Tag Q4_23_promote_green tag was added to gene: ABHD5.
gene: ABHD5 was added gene: ABHD5 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Literature Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD5 were set to 33455044 Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome, OMIM:275630 Review for gene: ABHD5 was set to GREEN