Bleeding and platelet disorders
Gene: PRKACG
Recommend Amber rating. Evidence for gene-phenotype association is limited to one family and functional work on patient CD34+ derived MKs. Further evidence in independent families and cellular or animal models required for considering this gene-disease association as clinically actionable. Tier 2 rating (Amber) curated by ISTH SSC Genomics in Thrombosis and Hemostasis Subcommittee.Created: 31 Jan 2021, 12:47 p.m. | Last Modified: 31 Jan 2021, 12:47 p.m.
Panel Version: 1.19
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Macrothrombocytopenia
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
The rating of this gene has been updated following NHS Genomic Medicine Service approval. It was agreed that PRKACG should be Red.Created: 4 Mar 2022, 9:41 a.m. | Last Modified: 4 Mar 2022, 9:42 a.m.
Panel Version: 1.33
Comment on list classification: Current Green gene rating based on GMS specialist test group consensus; however, note the recent review by Zornitza Stark (Australian Genomics) highlighting limited published evidence to support this gene-disease association. Based on literature, only sufficient for an Amber/Red rating. Will be flagged for review at the next GMS panel update (added 'for-review' tag).Created: 14 Jan 2021, 10:47 a.m. | Last Modified: 14 Jan 2021, 10:47 a.m.
Panel Version: 1.14
Single family reported only. A heterozygous VOUS reported in another individual in PMID 30819905 together with several other VOUS in same individual.Created: 16 Aug 2020, 3:26 a.m. | Last Modified: 16 Aug 2020, 3:26 a.m.
Panel Version: 1.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bleeding disorder, platelet-type, 19, MIM# 616176
Publications
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
616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19
Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.Created: 13 Feb 2019, 11:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
616176BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
616176.BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19
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: PRKACG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616176.BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): none submittedCreated: 18 Feb 2019, 11:28 a.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: PRKACG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616176BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): none submittedCreated: 13 Feb 2019, 11:34 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: PRKACG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616176.BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; 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: PRKACG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene as part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19; PMID(s): 25061177Created: 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.
Tag for-review was removed from gene: PRKACG.
Source Expert Review Red was added to PRKACG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for gene: PRKACG were changed from 616176BLEEDING DISORDER, PLATELET-TYPE, 19; 616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 to ?Bleeding disorder, platelet-type, 19, OMIM:616176; Platelet-type bleeding disorder 19, MONDO:0014518
Publications for gene: PRKACG were set to 25061177
Gene: prkacg has been classified as Green List (High Evidence).
Tag for-review tag was added to gene: PRKACG.
Added phenotypes 616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG
Source North West GLH was added to PRKACG.
Added phenotypes 616176BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG
Source Yorkshire and North East GLH was added to PRKACG.
Added phenotypes 616176BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG
Source London South GLH was added to PRKACG.
Source NHS GMS was added to PRKACG.
Source Expert Review Green was added to PRKACG. Mode of inheritance for gene PRKACG was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG Publications for gene PRKACG were changed from to 25061177 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: PRKACG was added gene: PRKACG was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PRKACG was set to