Pulmonary arterial hypertension

Gene: ENG

Green List (high evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: ENG; Suggested initial gene rating: Green; Evidence for inclusion: HHT gene; some cases described w/ PAH; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): Multiple promoter/UTR mutations, needs to be covered.
Created: 6 Dec 2018, 2:01 p.m.
Primary pulmonary hypertension is found in association with hereditary hemorrhagic telangiectasia type 1 caused by a mutation in the ENG gene, and there are more than three independent cases. Pulmonary hypertension is another pulmonary vascular manifestation of HHT and although less common than pulmonary AVMs, it can either result from systemic arteriovenous shunting in the liver increasing cardiac output or be clinically and histologically indistinguishable from idiopathic pulmonary arterial hypertension.
Created: 9 Jun 2017, 2:07 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Idiopathic pulmonary arterial hypertension; IPAH; Heritable pulmonary arterial hypertension; HPAH; Hereditary hemorrhagic telangiectasia; HHT

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
  • Literature
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1, 187300
  • Heritable pulmonary arterial hypertension
  • HPAH
  • Hereditary hemorrhagic telangiectasia
  • HHT
OMIM
131195
Clinvar variants
Variants in ENG
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ENG. Rating Changed from Green List (high evidence) to Green List (high evidence)

16 Apr 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ENG were set to 22632830; 7894484; 15024723; 16542389; 9366572; 9245986; 15951283; 24355637; 16752392; 17641482; 26387786; 26699722

22 Jun 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further in-house curation.

22 Jun 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

ENG was added to Pulmonary arterial hypertensionpanel. Sources: Expert list

14 Jun 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ENG were set to 22632830; 7894484; 15024723; 16542389; 9366572; 9245986; 15951283; 24355637; 16752392; 17641482; 26387786

9 Jun 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, 187300; Heritable pulmonary arterial hypertension; HPAH; Hereditary hemorrhagic telangiectasia; HHT

9 Jun 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, 187300;Heritable pulmonary arterial hypertension; HPAH; Hereditary hemorrhagic telangiectasia; HHT

9 Jun 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

ENG was added to Pulmonary arterial hypertensionpanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services

9 Jun 2017, Gel status: 0

Upload gene information

Louise Daugherty (Genomics England Curator)

ENG was added to Pulmonary arterial hypertensionpanel. Sources: Eligibility statement prior genetic testing

9 Jun 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

ENG was added to Pulmonary arterial hypertensionpanel. Sources: Literature

9 Jun 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

ENG was created by LouiseD