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Ichthyosis v0.50 PHYH Zornitza Stark Marked gene: PHYH as ready
Ichthyosis v0.50 PHYH Zornitza Stark Gene: phyh has been classified as Red List (Low Evidence).
Ichthyosis v0.20 PHYH Bryony Thompson gene: PHYH was added
gene: PHYH was added to Ichthyosis. Sources: Expert list
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHYH were set to 25604618; 9326940
Phenotypes for gene: PHYH were set to Refsum disease MIM#266500
Review for gene: PHYH was set to RED
Added comment: Ichthyosis is reported as a variable feature of Refsum disease. However, ichthyosis is only reported in a single case with biallelic PHYH variants. This finding is present in a minority of affected individuals, and is not the main diagnostic feature.
Sources: Expert list