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Mendeliome

Gene: ANGPTL6

Green List (high evidence)

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

2 reviews

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Seven additional patients from 6 families described with familial dominant intracranial aneurysms, 5 missense and 1 nonsense variant.
Created: 1 Mar 2021, 4:26 a.m. | Last Modified: 1 Mar 2021, 4:26 a.m.
Panel Version: 0.6485

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cerebral aneurysm

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Some evidence for association between rare variants and cerebral aneurysm but no definitive Mendelian gene-disease association.
Created: 7 Jan 2020, 11:05 p.m. | Last Modified: 7 Jan 2020, 11:05 p.m.
Panel Version: 0.710

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral aneurysm

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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

Alison Yeung (Victorian Clinical Genetics Services)

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

7 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: angptl6 has been classified as Red List (Low Evidence).

7 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANGPTL6 were changed from to Cerebral aneurysm

7 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ANGPTL6 were set to

7 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ANGPTL6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

7 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: angptl6 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANGPTL6 was added gene: ANGPTL6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ANGPTL6 was set to Unknown