EGFR
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
EGFR (HGNC:3236) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
epidermal growth factor receptor
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ERBB
Alias symbols
ERBB1, ERRP
%HI
0.3(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.98(Read more about gnomAD pLI score)
LOEUF
0.48(Read more about gnomAD LOEUF score)
Cytoband
7p11.2
Genomic Coordinates
GRCh37/hg19: chr7:55086710-55279321 NCBI Ensembl UCSC
GRCh38/hg38: chr7:55019017-55211628 NCBI Ensembl UCSC
MANE Select Transcript
NM_005228.5 ENST00000275493.7 (Read more about MANE Select)
Function
Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses (PubMed:2790960, PubMed:10805725, PubMed:27153536). Known ligands include EGF, TGFA/TGF-alpha, AREG, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin- binding EGF (PubMed:2790960, PubMed:7679104, PubMed:8144591, PubMed:9419975, PubMed:15611079, PubMed:12297049, PubMed:27153536, PubMed:20837704, PubMed:17909029). Lig... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36086
ClinGen Curation ID:
CCID:007056
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
05/11/2022

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 25606410
    There have been no whole gene deletions of EGFR or 7p11.2 reported. Varvagiannis et al. 2014 reported a 393kb 7p11.2 de novo microdeletion in a 27 month old boy presenting with psychomotor delay, dysmorphic features, and slight abnormalities of the hand and feet. However, other gene deletions were also found in the patient and they were not able to rule out any single gene disorder that may have occurred elsewhere in the genome or in the same region.
HI Evidence Comments:
While in-frame deletions in EGFR have been reported and associated with familial non-small cell lung carcinoma susceptibility, mechanism appears to be gain of function. While biallelic loss of function variants have been reported in ectodermal dysplasia (PMID: 29899996, 24691054) ,to date there is no current evidence of phenotype in carriers.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No evidence of triplosensitivity

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)