Cerebral vascular malformations
Gene: ENG
Combined reviews with Ian Berry (YNELGH), Vijeya Ganesan (Clinical expert - GOSH / ICH) & GEL clinical team (Richard Scott / Helen Brittain): relevant phenotype and sufficient evidence for a green ratingCreated: 29 Nov 2019, 6:57 p.m. | Last Modified: 29 Nov 2019, 6:57 p.m.
Panel Version: 1.67
Well recognised as causing HHT which can be associated with cerebral arteriovenous malformations. Offered as diagnostic test for HHT on UKGTNCreated: 12 Dec 2016, 3:13 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Telangiectasia, hereditary hemorrhagic, type 1 187300
Publications
Source Yorkshire and North East GLH was added to ENG.
Source NHS GMS was added to ENG.
Phenotypes for ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 187300
Publications for ENG were set to 20301525;15024723
Publications for ENG were set to 20301525, 15024723
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
ENG was added to Cerebrovascular disorderspanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
This gene has been classified as Green List (High Evidence).
ENG was added to Cerebrovascular disorderspanel. Sources: Other
ENG was created by ellenmcdonagh