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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 |
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