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Vascular skin disorders
Gene: ENG

ENG (endoglin)
EnsemblGeneIds (GRCh38): ENSG00000106991
EnsemblGeneIds (GRCh37): ENSG00000106991
OMIM: 131195, Gene2Phenotype
ENG is in 9 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Publications

7894484

Created: 9 Dec 2019, 4:11 p.m.
Last Modified: 9 Dec 2019, 4:11 p.m.
Panel version: 0.24

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

Created: 31 Jan 2019, 12:05 p.m.

Panel version: 0.4

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

7894484

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