| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Palmoplantar Keratoderma and Erythrokeratoderma v1.3 | EGFR | chirag patel Marked gene: EGFR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v1.3 | EGFR | chirag patel Gene: egfr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v1.3 | EGFR | chirag patel Classified gene: EGFR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v1.3 | EGFR | chirag patel Gene: egfr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Palmoplantar Keratoderma and Erythrokeratoderma v1.2 | EGFR |
chirag patel gene: EGFR was added gene: EGFR was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: EGFR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EGFR were set to 41533385 Phenotypes for gene: EGFR were set to Wooly hair-palmoplantar keratoderma syndrome, MONDO:0014492; Acanthosis nigricans MONDO:0007035 Mode of pathogenicity for gene: EGFR was set to Other Review for gene: EGFR was set to AMBER Added comment: 3 unrelated individuals presenting with widespread acanthosis nigricans, woolly hair, palmoplantar keratoderma and pulmonary nodules (consistent with atypical adenomatous hyperplasia). They all had the same heterozygous variant in EGFR (p.L858R). Two were shown to be de novo, and one was in post‑zygotic mosaic state. Patient‑cell assays show increased EGFR‑signalling supporting a gain of function mechanism. Therapy with an EGFR inhibitor in the 2 patients with germline variants showed marked improvement in skin and lung manifestations. Sources: Literature |
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