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  2. Cerebral vascular malformations
  3. ANGPTL6
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Cerebral vascular malformations

Gene: ANGPTL6

Green List (high evidence)
ANGPTL6 (angiopoietin like 6)
EnsemblGeneIds (GRCh38): ENSG00000130812
EnsemblGeneIds (GRCh37): ENSG00000130812
OMIM: 609336, Gene2Phenotype
ANGPTL6 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six unrelated families reported.
Sources: Literature
Created: 1 Mar 2021, 9:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral aneurysm

Publications

Created: 1 Mar 2021, 9:36 a.m.

Panel version: 0.16

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebral aneurysm
OMIM
609336
Clinvar variants
Variants in ANGPTL6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: angptl6 has been classified as Green List (High Evidence).

1 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: angptl6 has been classified as Green List (High Evidence).

1 Mar 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANGPTL6 was added gene: ANGPTL6 was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: ANGPTL6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANGPTL6 were set to 29304371; 33106390 Phenotypes for gene: ANGPTL6 were set to Cerebral aneurysm Review for gene: ANGPTL6 was set to GREEN