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  2. Bleeding and Platelet Disorders
  3. PRKACG
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Bleeding and Platelet Disorders

Gene: PRKACG

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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.
Sources: Expert list
Created: 16 Aug 2020, 3:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bleeding disorder, platelet-type, 19, MIM# 616176

Publications

Created: 16 Aug 2020, 3:28 a.m.

Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bleeding disorder, platelet-type, 19, MIM# 616176
OMIM
176893
Clinvar variants
Variants in PRKACG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkacg has been classified as Red List (Low Evidence).

16 Aug 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRKACG was added gene: PRKACG was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: PRKACG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKACG were set to 25061177; 30819905 Phenotypes for gene: PRKACG were set to Bleeding disorder, platelet-type, 19, MIM# 616176 Review for gene: PRKACG was set to RED