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| Rhabdomyolysis and metabolic muscle disorders v3.37 | CHKB | Eleanor Williams changed review comment from: 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.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 v3.37 | CHKB |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: CHKB. Tag Q3_23_NHS_review was removed from gene: CHKB. |
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| Rhabdomyolysis and metabolic muscle disorders v3.37 | CHKB | Eleanor Williams reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.36 | CHKB |
Achchuthan Shanmugasundram Source Expert Review Green was added to CHKB. Source NHS GMS was added to CHKB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Rhabdomyolysis and metabolic muscle disorders v3.19 | CHKB | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.; to: Comment on list classification: This gene is proposed for promotion to green rating as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.10 | CHKB | Achchuthan Shanmugasundram Classified gene: CHKB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.10 | CHKB | Achchuthan Shanmugasundram Added comment: Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.10 | CHKB | Achchuthan Shanmugasundram Gene: chkb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v3.9 | CHKB |
Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: CHKB. Tag Q3_23_NHS_review tag was added to gene: CHKB. |
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| Rhabdomyolysis and metabolic muscle disorders v3.9 | CHKB |
Achchuthan Shanmugasundram gene: CHKB was added gene: CHKB was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKB were set to 37011121 Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, OMIM:602541 Review for gene: CHKB was set to GREEN Added comment: CHKB encodes choline kinase beta enzyme and it has been associated with congenital muscular dystrophy in OMIM (MIM #602541). PMID:37011121 - 44 cases with biallelic CHKB variants had congenital muscular dystrophy and 3 cases had limb-girdle muscular dystrophy. Of these 3 cases with LGMD, two had presented with adolescent- or adult-onset rhabdomyolysis. Sources: Expert list, Expert Review |
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