Intestinal failure or congenital diarrhoea

Gene: EGFR

Green List (high evidence)

EGFR (epidermal growth factor receptor)
EnsemblGeneIds (GRCh38): ENSG00000146648
EnsemblGeneIds (GRCh37): ENSG00000146648
OMIM: 131550, Gene2Phenotype
EGFR is in 6 panels

1 review

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069
OMIM
131550
Clinvar variants
Variants in EGFR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: EGFR was added gene: EGFR was added to Intestinal failure. Sources: Expert Review Green Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EGFR were set to 26436111; 29899996; 24691054 Phenotypes for gene: EGFR were set to ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069