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Palmoplantar keratodermas v3.24 | PHYH | Sarah Leigh Phenotypes for gene: PHYH were changed from Refsum disease to Refsum disease, OMIM:266500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v3.23 | PHYH | Sarah Leigh reviewed gene: PHYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v3.23 | PHYH |
Sarah Leigh Tag Q1_24_demote_red tag was added to gene: PHYH. Tag Q1_24_expert_review tag was added to gene: PHYH. |
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Palmoplantar keratodermas v1.3 | PHYH | Zornitza Stark reviewed gene: PHYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Refsum disease (MIM#266500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v0.5 | PHYH | Rebecca Foulger Source London North GLH was added to PHYH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v0.4 | PHYH | Rebecca Foulger reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v0.3 | PHYH |
Rebecca Foulger gene: PHYH was added gene: PHYH was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHYH were set to Refsum disease |