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Epidermolysis bullosa and congenital skin fragility

Gene: EGFR

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

3 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated from Amber to Red following NHS Genomic Medicine Service approval.
Created: 29 Jul 2022, 1:47 p.m. | Last Modified: 29 Jul 2022, 1:47 p.m.
Panel Version: 1.53
Created: 29 Jul 2022, 1:47 p.m.
Last Modified: 29 Jul 2022, 1:47 p.m.
Panel version: 1.53

Zornitza Stark (Australian Genomics)

Red List (low evidence)

One individual with inflammatory skin and bowel disease reported.
Created: 11 Aug 2020, 1:55 a.m. | Last Modified: 11 Aug 2020, 1:55 a.m.
Panel Version: 1.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Inflammatory skin and bowel disease, neonatal, 2 (MIM#616069)

Publications

Created: 11 Aug 2020, 1:55 a.m.
Last Modified: 11 Aug 2020, 1:55 a.m.
Panel version: 1.3

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: 0.15
Created: 9 Sep 2019, 3:38 p.m.
Last Modified: 9 Sep 2019, 3:38 p.m.
Panel version: 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
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

29 Jul 2022, Gel status: 1

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Red was added to EGFR. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

24 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: EGFR were changed from to ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069

24 Mar 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: EGFR were set to

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 Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal