Transplant Co-Morbidity Superpanel
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300
- 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
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ENG was added gene: ENG was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ENG were set to 34012068 Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300