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Mosaic skin disorders - deep sequencing

Gene: EGFR

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Tom Cullup (GOSH). Rating Amber inline with this review to facilitate further gathering of data where appropriate which could potentially support future promotion to Green. Single individual (PMID: 31745974) with nonepidermolytic keratinocytic epidermal naevi and a postzygotic variant in EGFR.
Created: 1 Nov 2023, 12:04 p.m. | Last Modified: 1 Nov 2023, 12:07 p.m.
Panel Version: 2.40
Created: 1 Nov 2023, 12:04 p.m.
Last Modified: 1 Nov 2023, 12:07 p.m.
Panel version: 2.40

Tom Cullup (Great Ormond Street Hospital)

I don't know

Insufficient evidence for green rating, but compelling evidence from publication of single case, and important to be able to analyse in phenotypically appropriate cases as an amber gene.
Sources: Expert list
Created: 9 May 2023, 10:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
nonepidermolytic keratinocytic epidermal naevus

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 9 May 2023, 10:45 a.m.

Panel version: 2.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • nonepidermolytic keratinocytic epidermal naevus
OMIM
131550
Clinvar variants
Variants in EGFR
Penetrance
unknown
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

1 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: egfr has been classified as Amber List (Moderate Evidence).

9 May 2023, Gel status: 0

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

Tom Cullup (Great Ormond Street Hospital)

gene: EGFR was added gene: EGFR was added to Mosaic skin disorders - deep sequencing. Sources: Expert list Mode of inheritance for gene: EGFR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EGFR were set to 31745974 Phenotypes for gene: EGFR were set to nonepidermolytic keratinocytic epidermal naevus Penetrance for gene: EGFR were set to unknown Mode of pathogenicity for gene: EGFR was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: EGFR was set to AMBER