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  2. Cytopenia - NOT Fanconi anaemia
  3. ACTN1
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Cytopenia - NOT Fanconi anaemia

Gene: ACTN1

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Macrothrombocytopenia; North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: Clearly associated with thromboctopenia - not always with bleeding phenotype.
Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Created: 4 Nov 2019, 7:30 p.m.
Last Modified: 4 Nov 2019, 7:30 p.m.
Panel version: 0.135

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert review Amber
  • NHS GMS
  • North West GLH
  • London South GLH
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Bleeding disorder, platelet-type, 15, 615193
  • Macrothrombocytopenia
OMIM
102575
Clinvar variants
Variants in ACTN1
Penetrance
None
Panels with this gene

History Filter Activity

4 Nov 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to ACTN1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

4 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert review Amber was added to ACTN1.

4 Nov 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ACTN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Bleeding disorder, platelet-type, 15, 615193; Macrothrombocytopenia for gene: ACTN1

4 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ACTN1 was added gene: ACTN1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS Mode of inheritance for gene: ACTN1 was set to