Childhood solid tumours
Gene: PRKAR1AEnsemblGeneIds (GRCh38): ENSG00000108946
EnsemblGeneIds (GRCh37): ENSG00000108946
OMIM: 188830, Gene2Phenotype
PRKAR1A is in 20 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Carney Complex, Familial Primary Pigmented Nodular Adrenocortical disease
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert List
- Phenotypes
-
- Familial Primary Pigmented Nodular Adrenocortical disease
- Carney Complex
- OMIM
- 188830
- Clinvar variants
- Variants in PRKAR1A
- Penetrance
- None
- 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
Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to PRKAR1A. Source NHS GMS was added to PRKAR1A. Mode of inheritance for gene PRKAR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Familial Primary Pigmented Nodular Adrenocortical disease; Carney Complex for gene: PRKAR1A Publications for gene PRKAR1A were changed from to 11115848 Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: PRKAR1A was added gene: PRKAR1A was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: PRKAR1A was set to