Inherited bleeding disorders
Gene: ENG
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 GreenCreated: 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 listCreated: 20 Sep 2018, 1:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Telangiectasia, hereditary hemorrhagic, type 1, 187300
Publications
Gene: eng has been classified as Green List (High Evidence).
Publications for gene: ENG were set to 9245986
Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1, 187300 to Telangiectasia, hereditary hemorrhagic, type 1, 187300; Bleeding disorder
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