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Rhabdomyolysis and metabolic muscle disorders v2.5 | PHKB |
Arina Puzriakova Tag Q4_21_rating was removed from gene: PHKB. Tag Q4_21_phenotype was removed from gene: PHKB. Tag Q2_22_expert_review was removed from gene: PHKB. |
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Rhabdomyolysis and metabolic muscle disorders v2.5 | PHKB | Arina Puzriakova reviewed gene: PHKB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v2.4 | PHKB |
Arina Puzriakova Source Expert Review Red was added to PHKB. Source NHS GMS was added to PHKB. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Rhabdomyolysis and metabolic muscle disorders v1.78 | PHKB | Sarah Leigh Tag Q2_22_expert_review tag was added to gene: PHKB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.59 | PHKB | Sarah Leigh edited their review of gene: PHKB: Added comment: Although pathogenic variants in PHKB result in reduced levels of phosphorylase kinase in the liver and muscle, it would appear that this results in hepatomegaly and minimal effect on the muscles (PMID 9215682 & 30397902).; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.59 | PHKB | Sarah Leigh Publications for gene: PHKB were set to 27604308; 9215682; 30397902 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.58 | PHKB |
Sarah Leigh Tag Q4_21_rating tag was added to gene: PHKB. Tag Q4_21_phenotype tag was added to gene: PHKB. |
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Rhabdomyolysis and metabolic muscle disorders v1.58 | PHKB | Sarah Leigh Publications for gene: PHKB were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders v1.42 | PHKB | Zornitza Stark reviewed gene: PHKB: Rating: RED; Mode of pathogenicity: None; Publications: 9215682, 30397902; Phenotypes: Phosphorylase kinase deficiency of liver and muscle, autosomal recessive MIM#261750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PHKB | Sarah Leigh marked PHKB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PHKB | Sarah Leigh added PHKB to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and metabolic muscle disorders | PHKB | Sarah Leigh reviewed PHKB |