Vascular skin disorders

Gene: ENG

Green List (high evidence)

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

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: ENG; 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: 31 Jan 2019, 12:05 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300
OMIM
131195
Clinvar variants
Variants in ENG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ENG were changed from Hereditary haemorrhagic telengiectasia to Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300

22 Mar 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ENG were set to

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to ENG.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ENG was added gene: ENG was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ENG were set to Hereditary haemorrhagic telengiectasia