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  3. ENG
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Vascular Malformations_Somatic

Gene: ENG

Green List (high evidence)
ENG (endoglin)
EnsemblGeneIds (GRCh38): ENSG00000106991
EnsemblGeneIds (GRCh37): ENSG00000106991
OMIM: 131195, Gene2Phenotype
ENG is in 13 panels

1 review

Chris Richmond (Genetic Health Queensland)

Green List (high evidence)

Primarily germline, but mosaic cases reported (21378382)
Sources: Expert Review
Created: 2 Jul 2020, 12:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Telangiectasia, hereditary hemorrhagic, type 2 (600376)

Publications

Created: 2 Jul 2020, 12:03 a.m.

Panel version: 0.9

History Filter Activity

2 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Jul 2020, Gel status: 0

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

Chris Richmond (Genetic Health Queensland)

gene: ENG was added gene: ENG was added to Vascular Malformations_Somatic. Sources: Expert Review Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ENG were set to 21378382 Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 2 (600376) Penetrance for gene: ENG were set to unknown Review for gene: ENG was set to GREEN