Bleeding and platelet disorders

Gene: PRKACG

Green List (high evidence)

PRKACG (protein kinase cAMP-activated catalytic subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000165059
EnsemblGeneIds (GRCh37): ENSG00000165059
OMIM: 176893, Gene2Phenotype
PRKACG is in 2 panels

8 reviews

Kate Downes (Uni of Cambridge / CUH)

Red List (low evidence)

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

Arina Puzriakova (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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

Steve Keeney (Central Manchester Foundation Trust)

Green List (high evidence)

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 group
Created: 18 Feb 2019, 11:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19

Mandy nesbitt (Healthcare Professional)

Green List (high evidence)

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

Michael Mitchell (Guy's & St. Thomas' NHS Trust)

Green List (high evidence)

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

Louise Daugherty (Genomics England Curator)

I don't know

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 submitted
Created: 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 submitted
Created: 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 submitted
Created: 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): 25061177
Created: 5 Feb 2019, 1:26 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Bleeding disorder, platelet-type, 19, OMIM:616176
  • Platelet-type bleeding disorder 19, MONDO:0014518
Tags
for-review
OMIM
176893
Clinvar variants
Variants in PRKACG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

14 Jan 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: PRKACG were set to 25061177

14 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: prkacg has been classified as Green List (High Evidence).

14 Jan 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: PRKACG.

18 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG

18 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to PRKACG.

13 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 616176BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG

13 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to PRKACG.

7 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 616176BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 for gene: PRKACG

7 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to PRKACG.

5 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PRKACG.

5 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

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)

5 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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