Inherited bleeding disorders

Gene: ENG

Green List (high evidence)

ENG (endoglin)
EnsemblGeneIds (GRCh38): ENSG00000106991
EnsemblGeneIds (GRCh37): ENSG00000106991
OMIM: 131195, Gene2Phenotype
ENG is in 9 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene from NIHRRD-BR BRIDGE Bleeding and Platelet Disorders project, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Created: 20 Sep 2018, 3:59 p.m.
Comment on publications: Added publications suggested to support upgrading of the gene to Green
Created: 20 Sep 2018, 3:57 p.m.
New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SSC meeting Dublin 2018.
Sources: Expert list
Created: 20 Sep 2018, 1:23 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, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1, 187300
  • Bleeding disorder
OMIM
131195
Clinvar variants
Variants in ENG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: eng has been classified as Green List (High Evidence).

20 Sep 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ENG were set to 9245986

20 Sep 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1, 187300 to Telangiectasia, hereditary hemorrhagic, type 1, 187300; Bleeding disorder

20 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: ENG was added gene: ENG was added to Inherited bleeding disorders. Sources: Expert list Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ENG were set to 9245986 Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, 187300 Review for gene: ENG was set to GREEN