Multiple bowel polyps

Gene: ENG

Red List (low evidence)

ENG (endoglin)
EnsemblGeneIds (GRCh38): ENSG00000106991
EnsemblGeneIds (GRCh37): ENSG00000106991
OMIM: 131195, Gene2Phenotype
ENG is in 10 panels

2 reviews

Ian Frayling (Cardiff University)

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

Ellen Thomas (Genomics England Curator)

Comment when marking as ready: Insufficient evidence for ENG causing juvenile polyposis at this time.
Created: 29 Jan 2016, 3:23 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Juvenile Polyposis
OMIM
131195
Clinvar variants
Variants in ENG
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ENG was added to Multiple bowel polypspanel. Sources: Illumina TruGenome Clinical Sequencing Services