| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ichthyosis v0.40 | ERCC2 | Zornitza Stark Marked gene: ERCC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.40 | ERCC2 | Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.40 | ERCC2 | Zornitza Stark Classified gene: ERCC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.40 | ERCC2 | Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.37 | ERCC3 |
Bryony Thompson gene: ERCC3 was added gene: ERCC3 was added to Ichthyosis. Sources: Literature Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC3 were set to 9012405; 28913623 Phenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive MIM#616390 Review for gene: ERCC3 was set to RED Added comment: Gene has been reported to cause a syndromic ichthyosis, but there is only one report of ichthyosis in a single case. Ichthyosis is more prevalent in Trichothiodystrophy 1, which is caused by ERCC2. Sources: Literature |
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| Ichthyosis v0.14 | ERCC2 |
Bryony Thompson gene: ERCC2 was added gene: ERCC2 was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC2 were set to 9651581; 30580289; 27862069; 25002996; 20944642 Phenotypes for gene: ERCC2 were set to Trichothiodystrophy 1, photosensitive MIM#601675; photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature (PIBIDS) Review for gene: ERCC2 was set to GREEN Added comment: Ichthyosis can be a feature of the condition, and has been reported in >3 unrelated families. Mouse model recapitulates phenotype including skin abnormalities. Trichothiodystrophy 1has been characterised as a syndromic ichthyosis Sources: Expert list |
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