Cerebral vascular malformations

Gene: ANGPTL6

Amber List (moderate evidence)

ANGPTL6 (angiopoietin like 6)
EnsemblGeneIds (GRCh38): ENSG00000130812
EnsemblGeneIds (GRCh37): ENSG00000130812
OMIM: 609336, Gene2Phenotype
ANGPTL6 is in 1 panel

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Not associated with relevant phenotype in OMIM or Gen2Phen. At least 9 variants reported in at least 11 families with Familial Intracranial Aneurysm. Expression and secretion studies have been performed for NM_031917.2. c.1378A>T, p.Lys460Ter, showing that although it is expressed it is not secreted.
Created: 30 Apr 2021, 6:30 a.m. | Last Modified: 30 Apr 2021, 6:30 a.m.
Panel Version: 2.50
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 30 Apr 2021, 5:52 a.m. | Last Modified: 30 Apr 2021, 5:52 a.m.
Panel Version: 2.49

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Six unrelated families reported.
Sources: Literature
Created: 5 Mar 2021, 6:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral aneurysm

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • brain aneurysm MONDO:0005291
Tags
Q2_21_rating
OMIM
609336
Clinvar variants
Variants in ANGPTL6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: ANGPTL6.

30 Apr 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ANGPTL6 were set to 29304371; 33106390

30 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: angptl6 has been classified as Amber List (Moderate Evidence).

30 Apr 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ANGPTL6 were changed from Cerebral aneurysm to brain aneurysm MONDO:0005291

5 Mar 2021, Gel status: 0

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

Zornitza Stark (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 gene: ANGPTL6 was marked as current diagnostic