Bleeding and Platelet Disorders
Gene: ACTN1EnsemblGeneIds (GRCh38): ENSG00000072110
EnsemblGeneIds (GRCh37): ENSG00000072110
OMIM: 102575, Gene2Phenotype
ACTN1 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least 6 unrelated families reported.
Sources: Expert listCreated: 11 Aug 2020, 2:59 a.m.
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
- Expert list
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: actn1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: actn1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ACTN1 was added gene: ACTN1 was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTN1 were set to 23434115 Phenotypes for gene: ACTN1 were set to Bleeding disorder, platelet-type, 15, MIM# 615193 Review for gene: ACTN1 was set to GREEN