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Rare genetic inflammatory skin disorders

Gene: EGFR

Green List (high evidence)
EGFR (epidermal growth factor receptor)
EnsemblGeneIds (GRCh38): ENSG00000146648
EnsemblGeneIds (GRCh37): ENSG00000146648
OMIM: 131550, Gene2Phenotype
EGFR is in 7 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2; NISBD2

Publications

Created: 12 Dec 2019, 3:08 p.m.
Last Modified: 12 Dec 2019, 3:08 p.m.
Panel version: 0.21

Catherine Snow (Genomics England)

I don't know

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
Created: 9 Sep 2019, 3:38 p.m.
Last Modified: 9 Sep 2019, 3:38 p.m.
Panel version: 0.14

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

1 Nov 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

12 Dec 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Catherine Snow (Genomics England)

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)

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

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