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  3. ACTN1
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Inherited bleeding disorders

Gene: ACTN1

Green List (high evidence)
ACTN1 (actinin alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000072110
EnsemblGeneIds (GRCh37): ENSG00000072110
OMIM: 102575, Gene2Phenotype
ACTN1 is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

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

Phenotypes
Macrothrombocytopenia

Created: 19 Dec 2016, 11:31 a.m.

Panel version: 0.18

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Macrothrombocytopenia

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Dec 2016, 11:18 a.m.

Panel version: 0.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Macrothrombocytopenia
OMIM
102575
Clinvar variants
Variants in ACTN1
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ACTN1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ACTN1 was created by ellenmcdonagh