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| Ichthyosis v1.11 | GTF2H5 | Ee Ming Wong reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24986372, 30359777, 37356817; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.64 | GTF2H5 | Zornitza Stark Marked gene: GTF2H5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.64 | GTF2H5 | Zornitza Stark Gene: gtf2h5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.64 | GTF2H5 | Zornitza Stark Classified gene: GTF2H5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.64 | GTF2H5 | Zornitza Stark Gene: gtf2h5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.38 | GTF2H5 |
Bryony Thompson gene: GTF2H5 was added gene: GTF2H5 was added to Ichthyosis. Sources: Literature Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2H5 were set to 30359777; 24986372 Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive MIM#616395 Review for gene: GTF2H5 was set to AMBER Added comment: Congenital ichthyosis has been reported as a feature of this condition in two cases with biallelic variants in this gene. Sources: Literature |
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