Stroke
Gene: ENG
ENG (endoglin)
EnsemblGeneIds (GRCh38): ENSG00000106991
EnsemblGeneIds (GRCh37): ENSG00000106991
OMIM: 131195, Gene2Phenotype
ENG is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000106991
EnsemblGeneIds (GRCh37): ENSG00000106991
OMIM: 131195, Gene2Phenotype
ENG is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 11 Mar 2021, 7:46 a.m. | Last Modified: 11 Mar 2021, 7:46 a.m.
Panel Version: 0.81
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Telangiectasia, hereditary hemorrhagic, type 1 187300
- OMIM
- 131195
- Clinvar variants
- Variants in ENG
- Penetrance
- None
- 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
11 Mar 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: eng has been classified as Green List (High Evidence).
22 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ENG was added gene: ENG was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 187300