Cerebral vascular malformations
Gene: ENG
Classified as Definitive by ClinGen HHT GCEP on 05/12/2022 - https://search.clinicalgenome.org/CCID:004749
Vascular malformations is a feature of this condition.Created: 18 Nov 2024, 12:42 a.m. | Last Modified: 18 Nov 2024, 12:42 a.m.
Panel Version: 0.39
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
telangiectasia, hereditary hemorrhagic, type 1 MONDO:0008535
Publications
Well-established gene-disease association. Hereditary hemorrhagic telangiectasia (HHT) is diagnosed by the presence of 3 or more of the Curacao criteria. ENG is included on the ACMG V3.0 secondary findings list for clinically actionable genes. Pulmonary arterial hypertension can be a feature of the condition, along with HHT.
ClinGen Hemostasis Thrombosis GCEP has classified the gene-disease validity as DEFINITIVE. Classification - 08/28/2019.Created: 1 Apr 2022, 4:12 a.m. | Last Modified: 1 Apr 2022, 4:12 a.m.
Panel Version: 0.12404
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hereditary hemorrhagic telangiectasia MONDO:0019180
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: ENG was added gene: ENG was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ENG were set to 15024723; 20301525 Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 187300