Multiple lipomas
Gene: EGFR
EGFR (epidermal growth factor receptor)
EnsemblGeneIds (GRCh38): ENSG00000146648
EnsemblGeneIds (GRCh37): ENSG00000146648
OMIM: 131550, Gene2Phenotype
EGFR is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000146648
EnsemblGeneIds (GRCh37): ENSG00000146648
OMIM: 131550, Gene2Phenotype
EGFR is in 7 panels
1 review
Ellen McDonagh (Genomics England Curator)
FHI has histologic overlap with mesenchymal overgrowth tumors seen in CLOVES (Congenital Lipomatous Overgrowth with Vascular, Epidermal, Skeletal anomalies) and Proteus syndromes. "The consistent occurrence of EGFR exon 20 insertion/duplication mutations in 100% of cases of FHI studied suggests that they must play a principal role in the pathogenesis of FHI, likely by conferring a potential for growth and local infiltration."Created: 31 Oct 2016, 12:50 p.m.
Mode of inheritance
Other
Phenotypes
Fibrous hamartoma of infancy (FHI)
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- Other - please specifiy in evaluation comments
- Sources
-
- Literature
- Phenotypes
-
- Fibrous hamartoma of infancy (FHI)
- OMIM
- 131550
- Clinvar variants
- Variants in EGFR
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
History Filter Activity
14 Dec 2016, Gel status: 0
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)14/Dec/2016: panel reviewed internally and promoted to version 1.
31 Oct 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)EGFR was created by ellenmcdonagh
31 Oct 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)EGFR was added to Multiple lipomaspanel. Sources: Literature