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Carney complex
Gene: PRKAR1A
PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000108946
EnsemblGeneIds (GRCh37): ENSG00000108946
OMIM: 188830, Gene2Phenotype
PRKAR1A is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000108946
EnsemblGeneIds (GRCh37): ENSG00000108946
OMIM: 188830, Gene2Phenotype
PRKAR1A is in 20 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #160980) and the OMIM record was last accessed on 17 December 2025.Created: 17 Dec 2025, 10:32 p.m. | Last Modified: 17 Dec 2025, 10:32 p.m.
Panel Version: 1.2
PRKAR1A has been added to the panel for R156 Carney complex with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 9:42 a.m. | Last Modified: 30 Jun 2023, 9:42 a.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Carney complex, OMIM:160980
- Carney complex, type 1, MONDO:0008057
- OMIM
- 188830
- Clinvar variants
- Variants in PRKAR1A
- Penetrance
- None
- Panels with this gene
-
- Inherited phaeochromocytoma and paraganglioma
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- Multiple monogenic benign skin tumours
- DDG2P
- Parathyroid Cancer
- Intellectual disability
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Childhood solid tumours
- Multiple endocrine tumours
- Endocrine neoplasia
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited non-medullary thyroid cancer
- Fetal anomalies
- Congenital hypothyroidism
- Thyroid cancer pertinent cancer susceptibility
- Primary pigmented nodular adrenocortical disease
- Skeletal dysplasia
- Childhood solid tumours cancer susceptibility
- Carney complex
History Filter Activity
17 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: PRKAR1A were changed from to Carney complex, OMIM:160980; Carney complex, type 1, MONDO:0008057
29 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: PRKAR1A was added gene: PRKAR1A was added to Carney complex. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted