Hereditary Pigmentary Disorders

Gene: PRKAR1A

Green List (high evidence)

PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000108946
EnsemblGeneIds (GRCh37): ENSG00000108946
OMIM: 188830, Gene2Phenotype
PRKAR1A is in 16 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Profuse pigmented skin lesions are a feature of the condition.
Sources: Expert list
Created: 30 May 2025, 5:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Carney complex, type 1 MONDO:0008057

Publications

Variants in this GENE are reported as part of current diagnostic practice

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Carney Complex (CNC) is a familial lentiginosis syndrome, caused by PRKAR1A mutations that lead to cyclic AMP-dependent protein kinase (PKA) signaling pathway abnormalities, predisposing to a variety of skin tumors, myxomas and endocrine tumors. Multiple families reported, some with isolated cardiac or endocrine findings. All of these disorders likely represent a continuum.
Created: 18 Apr 2022, 9:06 a.m. | Last Modified: 18 Apr 2022, 9:06 a.m.
Panel Version: 0.13004

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Acrodysostosis 1, with or without hormone resistance, MIM# 101800; Carney complex, type 1, MIM# 160980; Myxoma, intracardiac, MIM# 255960; Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489

Publications

History Filter Activity

30 May 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: prkar1a has been classified as Green List (High Evidence).

30 May 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: prkar1a has been classified as Green List (High Evidence).

30 May 2025, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PRKAR1A was added gene: PRKAR1A was added to Hereditary Pigmentary Disorders. Sources: Expert list Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKAR1A were set to 10973256; 11115848; 12424709; 21651393 Phenotypes for gene: PRKAR1A were set to Carney complex, type 1 MONDO:0008057 Review for gene: PRKAR1A was set to GREEN gene: PRKAR1A was marked as current diagnostic