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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.27 | ABHD5 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ABHD5. Tag Q4_23_NHS_review tag was added to gene: ABHD5. |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.27 | ABHD5 |
Achchuthan Shanmugasundram changed review comment from: 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). ; to: 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). |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.27 | ABHD5 | Achchuthan Shanmugasundram Classified gene: ABHD5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.27 | ABHD5 | Achchuthan Shanmugasundram Gene: abhd5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.26 | ABHD5 | Achchuthan Shanmugasundram Phenotypes for gene: ABHD5 were changed from OMIM 604780 (Chanarin-Dorfman syndrome) to Chanarin-Dorfman syndrome, OMIM:275630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.25 | ABHD5 | Achchuthan Shanmugasundram changed review comment from: 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). However, this gene should be included as part of Rhabdomyolysis and metabolic muscle disorders panel (66) rather than this panel. This is because I cannot see any evidence of limb-girdle muscular dystrophy/ weakness and the myopathy caused was due to enzyme deficiency/ metabolic disorder.; to: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.25 | ABHD5 | Achchuthan Shanmugasundram edited their review of gene: ABHD5: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.25 | ABHD5 | Achchuthan Shanmugasundram changed review comment from: 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). However, this gene should be included as part of Rhabdomyolysis and metabolic muscle disorders panel (66) rather than this panel. This is because I cannot see any evidence of limb-girdle dystrophy/ weakness and the myopathy caused was due to metabolic disorder.; to: 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). However, this gene should be included as part of Rhabdomyolysis and metabolic muscle disorders panel (66) rather than this panel. This is because I cannot see any evidence of limb-girdle muscular dystrophy/ weakness and the myopathy caused was due to enzyme deficiency/ metabolic disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.25 | ABHD5 | Achchuthan Shanmugasundram edited their review of gene: ABHD5: Added comment: 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). However, this gene should be included as part of Rhabdomyolysis and metabolic muscle disorders panel (66) rather than this panel. This is because I cannot see any evidence of limb-girdle dystrophy/ weakness and the myopathy caused was due to metabolic disorder.; Changed publications to: 33455044; Changed phenotypes to: Chanarin-Dorfman syndrome, OMIM:275630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.25 | ABHD5 | Achchuthan Shanmugasundram reviewed gene: ABHD5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chanarin-Dorfman syndrome, OMIM<; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.24 | ABHD5 |
Oliver Watkinson 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 Added comment: 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: Literature |
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