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Rhabdomyolysis and metabolic muscle disorders v4.3 ABHD5 Arina Puzriakova Tag Q4_23_promote_green was removed from gene: ABHD5.
Rhabdomyolysis and metabolic muscle disorders v4.3 ABHD5 Arina Puzriakova edited their review of gene: ABHD5: Changed rating: GREEN
Rhabdomyolysis and metabolic muscle disorders v4.3 ABHD5 Arina Puzriakova changed review comment from: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; to: 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.
Rhabdomyolysis and metabolic muscle disorders v4.3 ABHD5 Arina Puzriakova reviewed gene: ABHD5: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders v4.2 ABHD5 Arina Puzriakova 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)
Rhabdomyolysis and metabolic muscle disorders v3.44 ABHD5 Achchuthan Shanmugasundram changed review comment from: 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 the myopathy was caused by metabolic deficiency, this gene should be added to this panel.
Sources: Literature; to: 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: Literature
Rhabdomyolysis and metabolic muscle disorders v3.44 ABHD5 Achchuthan Shanmugasundram changed review comment from: 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.
Sources: Literature; to: 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 the myopathy was caused by metabolic deficiency, this gene should be added to this panel.
Sources: Literature
Rhabdomyolysis and metabolic muscle disorders v3.44 ABHD5 Achchuthan Shanmugasundram Classified gene: ABHD5 as Amber List (moderate evidence)
Rhabdomyolysis and metabolic muscle disorders v3.44 ABHD5 Achchuthan Shanmugasundram Added comment: 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.
Rhabdomyolysis and metabolic muscle disorders v3.44 ABHD5 Achchuthan Shanmugasundram Gene: abhd5 has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and metabolic muscle disorders v3.43 ABHD5 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ABHD5.
Rhabdomyolysis and metabolic muscle disorders v3.43 ABHD5 Achchuthan Shanmugasundram 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
Added comment: 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.
Sources: Literature