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  2. Bleeding and Platelet Disorders
  3. ANO6
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Bleeding and Platelet Disorders

Gene: ANO6

Green List (high evidence)
ANO6 (anoctamin 6)
EnsemblGeneIds (GRCh38): ENSG00000177119
EnsemblGeneIds (GRCh37): ENSG00000177119
OMIM: 608663, Gene2Phenotype
ANO6 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Scott syndrome is a mild platelet-type bleeding disorder characterized by impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents.

At least 3 unrelated families reported, animal models and other supportive functional evidence.
Created: 31 May 2021, 11:02 a.m. | Last Modified: 31 May 2021, 11:02 a.m.
Panel Version: 0.223

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Scott syndrome, MIM# 262890; MONDO:0009885

Publications

Created: 31 May 2021, 11:02 a.m.
Last Modified: 31 May 2021, 11:02 a.m.
Panel version: 0.226

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Scott syndrome, MIM# 262890
  • MONDO:0009885
OMIM
608663
Clinvar variants
Variants in ANO6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ano6 has been classified as Green List (High Evidence).

31 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANO6 were changed from to Scott syndrome, MIM# 262890; MONDO:0009885

31 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ANO6 were set to

31 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ANO6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANO6 was added gene: ANO6 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ANO6 was set to Unknown