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Mendeliome

Gene: ACTN1

Green List (high evidence)

ACTN1 (actinin alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000072110
EnsemblGeneIds (GRCh37): ENSG00000072110
OMIM: 102575, Gene2Phenotype
ACTN1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 6 unrelated families reported.
Created: 11 Aug 2020, 3 a.m. | Last Modified: 11 Aug 2020, 3 a.m.
Panel Version: 0.3745

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bleeding disorder, platelet-type, 15, MIM# 615193

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bleeding disorder, platelet-type, 15, MIM# 615193
OMIM
102575
Clinvar variants
Variants in ACTN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: actn1 has been classified as Green List (High Evidence).

11 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACTN1 were changed from to Bleeding disorder, platelet-type, 15, MIM# 615193

11 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACTN1 were set to

11 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ACTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACTN1 was added gene: ACTN1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ACTN1 was set to Unknown