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| Mosaic skin disorders - deep sequencing v2.40 | EGFR | Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Tom Cullup (GOSH). Rating Amber inline with his review. Single individual (PMID: 31745974) with nonepidermolytic keratinocytic epidermal naevi and a postzygotic variant in EGFR.; to: Comment on list classification: New gene added by Tom Cullup (GOSH). Rating Amber inline with this review to facilitate further gathering of data where appropriate which could potentially support future promotion to Green. Single individual (PMID: 31745974) with nonepidermolytic keratinocytic epidermal naevi and a postzygotic variant in EGFR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.40 | EGFR | Arina Puzriakova Classified gene: EGFR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.40 | EGFR | Arina Puzriakova Added comment: Comment on list classification: New gene added by Tom Cullup (GOSH). Rating Amber inline with his review. Single individual (PMID: 31745974) with nonepidermolytic keratinocytic epidermal naevi and a postzygotic variant in EGFR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.40 | EGFR | Arina Puzriakova Gene: egfr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v2.1 | EGFR |
Tom Cullup gene: EGFR was added gene: EGFR was added to Mosaic skin disorders - deep sequencing. Sources: Expert list Mode of inheritance for gene: EGFR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EGFR were set to 31745974 Phenotypes for gene: EGFR were set to nonepidermolytic keratinocytic epidermal naevus Penetrance for gene: EGFR were set to unknown Mode of pathogenicity for gene: EGFR was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: EGFR was set to AMBER Added comment: Insufficient evidence for green rating, but compelling evidence from publication of single case, and important to be able to analyse in phenotypically appropriate cases as an amber gene. Sources: Expert list |
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