Bleeding and platelet disorders
Gene: ACTBAfter NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'. In addition, GMS reviewers note that there is no compelling evidence to associate with R90-syndromic gene.Created: 1 Feb 2023, 7:59 a.m. | Last Modified: 1 Feb 2023, 8:05 a.m.
Panel Version: 2.3
Could not find any evidence of biallelic cases for ACTB, therefore, the MOI should be changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown".Created: 5 Jul 2021, 9:18 a.m. | Last Modified: 5 Jul 2021, 9:18 a.m.
Panel Version: 1.27
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test groupCreated: 18 Feb 2019, 11:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AD thrombocytopenia
Gene rating submitted by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 7 Feb 2019, 1:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
AD thrombocytopenia; (NO OMIM NUMBER)
Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.Created: 18 Mar 2019, 3:21 p.m.
As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.Created: 18 Mar 2019, 2:07 p.m.
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTB; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: AD thrombocytopenia (NO OMIM NUMBER); PMID(s): none submittedCreated: 18 Feb 2019, 11:28 a.m.
Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTB; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: AD thrombocytopenia (NO OMIM NUMBER); PMID(s): none submittedCreated: 7 Feb 2019, 1:28 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACTB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene as part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: AD thrombocytopenia; (NO OMIM NUMBER); PMID(s): 30451859Created: 5 Feb 2019, 1:26 p.m.
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 5 Feb 2019, 11:19 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_21_MOI was removed from gene: ACTB.
Tag Q3_21_MOI tag was added to gene: ACTB.
Phenotypes for gene: ACTB were changed from (NO OMIM NUMBER); AD thrombocytopenia to thrombocytopenia, MONDO:0002049 (AD)
Mode of inheritance for gene: ACTB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: actb has been classified as Green List (High Evidence).
Added phenotypes AD thrombocytopenia for gene: ACTB
Source North West GLH was added to ACTB.
Added phenotypes AD thrombocytopenia for gene: ACTB
Source London South GLH was added to ACTB.
Source NHS GMS was added to ACTB.
Source Expert Review Green was added to ACTB. Mode of inheritance for gene ACTB was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes (NO OMIM NUMBER); AD thrombocytopenia for gene: ACTB Publications for gene ACTB were changed from to 30451859 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: ACTB was added gene: ACTB was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ACTB was set to