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Endocrine neoplasia

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

1 review

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Promoting from red to amber. More than one case of patient with ACC and germline variants in EGFR. But no family history/segregation data to further confirm the disease association.
Created: 4 Feb 2021, 10:32 a.m. | Last Modified: 4 Feb 2021, 10:32 a.m.
Panel Version: 1.12
PMID: 33326033 - Akhavanfard et al 2020 - identified a heterozygous germline variant in EGFR (c.3238 G>A, p.Asp1080Asn) in a 21 year old female with metastatic bilateral Adrenocortical carcinoma (ACC). Then they analyzed germline exome data from 21 children, 32 adolescents and young adults (15-39y), and 60 adult participants with ACC. 3.5% of all 113 ACC cases had at least a highly prioritized VUS germline EGFR variant, compared to only 0.3% in a non-TCGA (The Cancer Genome Atlas) ExAC control group (P < 0.0001). In the adolescents and young adults group 6.2% had ECGR variants. No segregation data.
Sources: Literature
Created: 3 Feb 2021, 6:46 p.m. | Last Modified: 3 Feb 2021, 6:52 p.m.
Panel Version: 1.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Adrenocortical carcinoma

Publications

Created: 3 Feb 2021, 6:46 p.m.
Last Modified: 3 Feb 2021, 6:52 p.m.
Panel version: 1.11

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Adrenocortical carcinoma
OMIM
131550
Clinvar variants
Variants in EGFR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

3 Feb 2021, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: EGFR was added gene: EGFR was added to Endocrine neoplasms. Sources: Literature Mode of inheritance for gene: EGFR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EGFR were set to 33326033 Phenotypes for gene: EGFR were set to Adrenocortical carcinoma Review for gene: EGFR was set to AMBER