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Cerebral vascular malformations

Gene: ENG

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as Definitive by ClinGen HHT GCEP on 05/12/2022 - https://search.clinicalgenome.org/CCID:004749

Vascular malformations is a feature of this condition.
Created: 18 Nov 2024, 12:42 a.m. | Last Modified: 18 Nov 2024, 12:42 a.m.
Panel Version: 0.39

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
telangiectasia, hereditary hemorrhagic, type 1 MONDO:0008535

Publications

Created: 18 Nov 2024, 12:42 a.m.
Last Modified: 18 Nov 2024, 12:42 a.m.
Panel version: 0.39

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1 187300
OMIM
131195
Clinvar variants
Variants in ENG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 May 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ENG was added gene: ENG was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ENG were set to 15024723; 20301525 Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 187300