Rhabdomyolysis and metabolic muscle disorders
Gene: ABHD5EnsemblGeneIds (GRCh38): ENSG00000011198
EnsemblGeneIds (GRCh37): ENSG00000011198
OMIM: 604780, Gene2Phenotype
ABHD5 is in 12 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 2 May 2024, 11:15 a.m. | Last Modified: 2 May 2024, 11:21 a.m.
Panel Version: 4.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Chanarin-Dorfman syndrome, OMIM:275630
- OMIM
- 604780
- Clinvar variants
- Variants in ABHD5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Arthrogryposis
- Intellectual disability
- Palmoplantar keratodermas
- Monogenic hearing loss
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Likely inborn error of metabolism
- Ichthyosis and erythrokeratoderma
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: ABHD5.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to ABHD5. Source NHS GMS was added to ABHD5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: abhd5 has been classified as Amber List (Moderate Evidence).
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green tag was added to gene: ABHD5.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)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