Cerebral vascular malformationsGene: ANGPTL6
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
Tag Q2_21_rating tag was added to gene: ANGPTL6.
Publications for gene: ANGPTL6 were set to 29304371; 33106390
Gene: angptl6 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ANGPTL6 were changed from Cerebral aneurysm to brain aneurysm MONDO:0005291
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