Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: ABHD5
As reviewed by Oliver Watkinson, Chanarin-Dorfman is a neutral lipid storage disorder and myopathy(generally tends to be slowly progressive muscle weakness) is part of the phenotype in 59% of reported cases (PMID:33455044). I agree with him that it should be included as part of R381 - Other rare neuromuscular disorders super panel (465).
This gene should therefore be added with green rating in this panel and also in panel 66 (as myopathy is caused by enzyme deficiency/ metabolic disorder).Created: 8 Dec 2023, 7:23 p.m. | Last Modified: 11 Dec 2023, 2:34 p.m.
Panel Version: 4.27
Phenotypes
Chanarin-Dorfman syndrome, OMIM:275630
Publications
Chanarin-Dorfman is a neutral lipid storage disorder. The review here summarises the world literature to date, with a good paragraph about myopathy towards the end of the discussion. The phenotype is quite variable, and can include multiple organ systems, but overall 59% of patients have high CK and muscle weakness. Skeletal muscle biopsy findings of lipid storage in this disorder are well described. Thus, this gene probably ought to be part of R381, and this seems like the best sub-panel to put it in, given that PNPLA2, a similar disorder, is also on this panel.
Sources: LiteratureCreated: 22 Nov 2023, 10:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM 604780 (Chanarin-Dorfman syndrome)
Publications
Tag Q4_23_promote_green tag was added to gene: ABHD5. Tag Q4_23_NHS_review tag was added to gene: ABHD5.
Gene: abhd5 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ABHD5 were changed from OMIM 604780 (Chanarin-Dorfman syndrome) to Chanarin-Dorfman syndrome, OMIM:275630
gene: ABHD5 was added gene: ABHD5 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. 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 OMIM 604780 (Chanarin-Dorfman syndrome) Penetrance for gene: ABHD5 were set to Complete Review for gene: ABHD5 was set to GREEN