Childhood solid tumours cancer susceptibility
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
Clare Turnbull (Queen Mary University London)
Tumour suppressor. Kinase. Rasopathy.Created: 5 Jul 2017, 11:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Carney Complex; Familial Primary Pigmented Nodular Adrenocortical disease
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Carney Complex
- Familial Primary Pigmented Nodular Adrenocortical disease
- OMIM
- 188830
- Clinvar variants
- Variants in PRKAR1A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Carney complex
- Intellectual disability
- Inherited phaeochromocytoma and paraganglioma
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- Multiple monogenic benign skin tumours
- DDG2P
- Parathyroid Cancer
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Childhood solid tumours
- Multiple endocrine tumours
- Endocrine neoplasia
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited non-medullary thyroid cancer
- Skeletal dysplasia
- Fetal anomalies
- Congenital hypothyroidism
- Thyroid cancer pertinent cancer susceptibility
- Primary pigmented nodular adrenocortical disease
History Filter Activity
7 Sep 2018, Gel status: 3
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumour suppressor. Kinase. Ras
5 Jul 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PRKAR1A was added to Childhood solid tumourspanel. Source: Expert Review Green
5 Jul 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PRKAR1A was added to Childhood solid tumourspanel. Sources: Expert list
5 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PRKAR1A was created by ellenmcdonagh