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
Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1 187300 to Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300
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 created by ellenmcdonagh
ENG was added to Cerebrovascular disorderspanel. Sources: Other