Cerebral vascular malformations
Gene: ANO1EnsemblGeneIds (GRCh38): ENSG00000131620
EnsemblGeneIds (GRCh37): ENSG00000131620
OMIM: 610108, Gene2Phenotype
ANO1 is in 4 panels
4 reviews
Sangavi Sivagnanasundram (Melbourne Health)
No new articles supporting the gene-disease association.
Review from Mendeliome:
PMID 37253099: screening analysis of Moyamoya disease (MMD) cohort revealed 8 individuals with variants in the ANO1 gene. Two families had the same rare variant p.Met658Val. The ANO1 rare variants were assessed using patch-clamp recordings, and the majority of variants, including ANO1 p.Met658Val, displayed increased sensitivity to intracellular Ca2+. Patients harboring these gain-of-function ANO1 variants had classic features of MMD, but also had aneurysm, stenosis, and/or occlusion in the posterior circulation. Amber rating due to somewhat conflicting segregation and functional data presented.Created: 18 Nov 2024, 4:31 a.m. | Last Modified: 18 Nov 2024, 4:31 a.m.
Panel Version: 0.39
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Moyamoya disease 7 MONDO:0958202
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Phenotypes
Moyamoya disease 7, MIM# 620687
Seb Lunke (Victorian Clinical Genetics Services)
Comment on list classification: This paper indicates a predisposition, with both functional data and segregation data somewhat conflicting. Keep at amber for now as clear causality (consistent with author views) remains to be established.Created: 6 Jul 2023, 2:47 a.m. | Last Modified: 6 Jul 2023, 2:49 a.m.
Panel Version: 0.34
Suliman Khan (Victorian Clinical Genetics Services)
PMID: 37253099: screening analysis of Moyamoya disease (MMD) cohort revealed 8 patients with variants in the ANO1 gene. Two families had the same rare variant p.Met658Val in ANO1 gene. The ANO1 rare variants were assessed using patch-clamp recordings, and the majority of variants, including ANO1 p.Met658Val, displayed increased sensitivity to intracellular Ca2+. Patients harboring these gain-of-function ANO1 variants had classic features of MMD, but also had aneurysm, stenosis, and/or occlusion in the posterior circulation.
Sources: LiteratureCreated: 6 Jul 2023, 2:27 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
moyamoya; cerebral arteriopathy
Publications
- PMID: 37253099
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Moyamoya disease 7, MIM# 620687
- OMIM
- 610108
- Clinvar variants
- Variants in ANO1
- Penetrance
- None
- Publications
-
- PMID: 37253099
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ANO1 were changed from Moyamoya disease, MONDO:0016820, ANO1 related to Moyamoya disease 7, MIM# 620687
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: ano1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)Phenotypes for gene: ANO1 were changed from moyamoya; cerebral arteriopathy to Moyamoya disease, MONDO:0016820, ANO1 related
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: ano1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Suliman Khan (Victorian Clinical Genetics Services)gene: ANO1 was added gene: ANO1 was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: ANO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANO1 were set to PMID: 37253099 Phenotypes for gene: ANO1 were set to moyamoya; cerebral arteriopathy Review for gene: ANO1 was set to GREEN