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Stroke

Gene: ANO1

Amber List (moderate evidence)
ANO1 (anoctamin 1)
EnsemblGeneIds (GRCh38): ENSG00000131620
EnsemblGeneIds (GRCh37): ENSG00000131620
OMIM: 610108, Gene2Phenotype
ANO1 is in 4 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Phenotypes
Moyamoya disease 7, MIM# 620687

Created: 1 Feb 2024, 1:40 a.m.
Last Modified: 1 Feb 2024, 1:40 a.m.
Panel version: 1.14

Krithika Murali (Victorian Clinical Genetics Services)

Comment on list classification: Conflicting functional studies, mechanistic uncertainty, high gnomAD frequency for some variants and incomplete penetrance in family pedigrees noted favouring Amber classification until further supportive evidence available.
Created: 6 Jul 2023, 3:39 a.m. | Last Modified: 6 Jul 2023, 3:39 a.m.
Panel Version: 1.9
Created: 6 Jul 2023, 3:39 a.m.
Last Modified: 6 Jul 2023, 3:39 a.m.
Panel version: 1.9

Suliman Khan (Victorian Clinical Genetics Services)

I don't know

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.
Created: 6 Jul 2023, 2:56 a.m. | Last Modified: 6 Jul 2023, 2:56 a.m.
Panel Version: 1.8

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

Phenotypes
moyamoya; cerebral arteriopathy; stroke; MONDO:0016820

Publications

Created: 6 Jul 2023, 2:56 a.m.
Last Modified: 6 Jul 2023, 2:56 a.m.
Panel version: 1.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Moyamoya disease 7, MIM# 620687
OMIM
610108
Clinvar variants
Variants in ANO1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

1 Feb 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANO1 were changed from moyamoya; cerebral arteriopathy; stroke; MONDO:0016820 to Moyamoya disease 7, MIM# 620687

6 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Krithika Murali (Victorian Clinical Genetics Services)

Gene: ano1 has been classified as Amber List (Moderate Evidence).

6 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Krithika Murali (Victorian Clinical Genetics Services)

Gene: ano1 has been classified as Amber List (Moderate Evidence).

6 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Krithika Murali (Victorian Clinical Genetics Services)

Gene: ano1 has been classified as Amber List (Moderate Evidence).

6 Jul 2023, Gel status: 0

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

Suliman Khan (Victorian Clinical Genetics Services)

gene: ANO1 was added gene: ANO1 was added to Stroke. Sources: Literature Mode of inheritance for gene: ANO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANO1 were set to PMID: 37253099 Phenotypes for gene: ANO1 were set to moyamoya; cerebral arteriopathy; stroke; MONDO:0016820 Penetrance for gene: ANO1 were set to unknown Review for gene: ANO1 was set to AMBER