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| Acute rhabdomyolysis v1.13 | PHKB | Achchuthan Shanmugasundram Classified gene: PHKB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v1.13 | PHKB | Achchuthan Shanmugasundram Added comment: Comment on list classification: PHKB gene was demoted to Red in 'Rhabdomyolysis and metabolic muscle disorders' panel (https://panelapp.genomicsengland.co.uk/panels/66/gene/PHKB/) in agreement with the NHS Genomic Medicine Service. Hence, we propose that this gene should be reviewed for demotion to red in this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v1.13 | PHKB | Achchuthan Shanmugasundram Gene: phkb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v1.12 | PHKB |
Achchuthan Shanmugasundram Tag Q3_23_expert_review tag was added to gene: PHKB. Tag Q3_23_demote_red tag was added to gene: PHKB. |
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| Acute rhabdomyolysis v1.12 | PHKB | Achchuthan Shanmugasundram reviewed gene: PHKB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, OMIM:261750; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v0.6 | PHKB | Arina Puzriakova reviewed gene: PHKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v0.2 | PHKB |
Arina Puzriakova gene: PHKB was added gene: PHKB was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHKB were set to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, OMIM:261750 |
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