This Panel is marked as Retired
Multiple Tumours
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
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Carney Complex
- Myxoma (cardiac/cutaneous/breast)
- Thyroid cancer, adenoma
- Pituitary adenoma
- Testicular cancer (sex cord-stromal tumor)
- Psammomatous melanotic schwannoma
- Adrenal cortical hyperplasia (Primary pigmented nodular adrenocortical disease)
- Multiple endocrine tumours
- Neuro-endocrine Tumours- PCC and PGL
- OMIM
- 188830
- Clinvar variants
- Variants in PRKAR1A
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Inherited phaeochromocytoma and paraganglioma
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Parathyroid Cancer
- Fetal anomalies
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Carney complex
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- Skeletal dysplasia
- Congenital hypothyroidism
- Endocrine neoplasia
- Multiple endocrine tumours
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- Inherited non-medullary thyroid cancer
- DDG2P
- Thyroid cancer pertinent cancer susceptibility
- Primary pigmented nodular adrenocortical disease
History Filter Activity
9 Mar 2016, Gel status: 4
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)PRKAR1A was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PRKAR1A was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PRKAR1A was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)