Cerebral vascular malformations

Gene: ENG

Green List (high evidence)

ENG (endoglin)
EnsemblGeneIds (GRCh38): ENSG00000106991
EnsemblGeneIds (GRCh37): ENSG00000106991
OMIM: 131195, Gene2Phenotype
ENG is in 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 rating
Created: 29 Nov 2019, 6:57 p.m. | Last Modified: 29 Nov 2019, 6:57 p.m.
Panel Version: 1.67

Alice Gardham (Genomics England)

Green List (high evidence)

Well recognised as causing HHT which can be associated with cerebral arteriovenous malformations. Offered as diagnostic test for HHT on UKGTN
Created: 12 Dec 2016, 3:13 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Telangiectasia, hereditary hemorrhagic, type 1 187300

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Other
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1 187300
OMIM
131195
Clinvar variants
Variants in ENG
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ENG.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ENG.

19 Dec 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 187300

19 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ENG were set to 20301525;15024723

19 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ENG were set to 20301525, 15024723

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

12 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Dec 2016, Gel status: 4

Upload gene information

Alice Gardham (Genomics England)

ENG was added to Cerebrovascular disorderspanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

12 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

9 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ENG was added to Cerebrovascular disorderspanel. Sources: Other

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ENG was created by ellenmcdonagh