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| Ichthyosis v0.50 | PEX7 | Zornitza Stark Marked gene: PEX7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.50 | PEX7 | Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.19 | PEX7 |
Bryony Thompson gene: PEX7 was added gene: PEX7 was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX7 were set to 12522768 Phenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B MIM#614879 Review for gene: PEX7 was set to RED Added comment: Ichthyosis is reported as a variable finding of Refsum disease, but it has not been reported in cases with PEX7 biallelic variants. Sources: Expert list |
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