Parathyroid Cancer
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
2 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Ellen Thomas (Genomics England Curator)
Comment when marking as ready: Carney complex doesn't include parathyroid carcinomaCreated: 28 Feb 2016, 4:11 p.m.
Details
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Pituitary Cancer, Parathyroid and Hypercalcemia
- OMIM
- 188830
- Clinvar variants
- Variants in PRKAR1A
- Penetrance
- Complete
- 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
28 Feb 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
18 Aug 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PRKAR1A was added to Parathyroid Cancerpanel. Sources: UKGTN