Rare genetic inflammatory skin disorders
Gene: EGFR
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:EGFR; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.14
Phenotypes for gene: EGFR were changed from INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MONDO:0014481 to ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069
Phenotypes for gene: EGFR were changed from NISBD2; INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 to INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MONDO:0014481
Source Expert Review Green was added to EGFR. Added phenotypes NISBD2; INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 for gene: EGFR Publications for gene EGFR were changed from to 24691054; 29899996; 26436111 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: EGFR was added gene: EGFR was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal