EGFR

epidermal growth factor receptor
OMIM: 131550, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red EGFR in Multiple lipomas


Version 1.1

review Other - please specifiy in evaluation comments
Sources
  • Literature
Phenotypes
  • Fibrous hamartoma of infancy (FHI)
Green EGFR in COVID-19 research


Level 2: Viral research
Version 1.141

review Unknown
Sources
  • Expert Review Green
  • OMIM
  • Expert list
Red EGFR in Epidermolysis bullosa and congenital skin fragility


Version 2.7
Latest signed off version: v2.2 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069
Green EGFR in Intestinal failure or congenital diarrhoea


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069
Green EGFR in Rare genetic inflammatory skin disorders


Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069
Amber EGFR in Endocrine neoplasia


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Adrenocortical carcinoma
Amber EGFR in Mosaic skin disorders - deep sequencing


Version 2.47
Latest signed off version: v2.0 (30 Nov 2022)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • nonepidermolytic keratinocytic epidermal naevus