Pulmonary Arterial Hypertension
Gene: ENGEnsemblGeneIds (GRCh38): ENSG00000106991
EnsemblGeneIds (GRCh37): ENSG00000106991
OMIM: 131195, Gene2Phenotype
ENG is in 13 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Pulmonary arterial hypertension can be a feature of the condition, along with HHT. PAH has been reported in at least 6 cases with heterozygous pathogenic ENG variants.Created: 27 Jan 2020, 11:49 p.m. | Last Modified: 27 Jan 2020, 11:49 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300; Pulmonary arterial hypertension
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300
- Pulmonary arterial hypertension
- OMIM
- 131195
- Clinvar variants
- Variants in ENG
- Penetrance
- None
- Publications
- Panels with this gene
-
- Vascular Malformations_Germline
- Stroke
- Vascular Malformations_Somatic
- Additional findings_Adult
- Additional findings_Paediatric
- Hereditary Haemorrhagic Telangiectasia
- Mendeliome
- BabyScreen+ newborn screening
- Pulmonary Arterial Hypertension
- Interstitial Lung Disease
- Cerebral vascular malformations
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: eng has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300 to Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300; Pulmonary arterial hypertension
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ENG were set to
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: eng has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ENG was added gene: ENG was added to Pulmonary Arterial Hypertension. Sources: Expert list Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300