Multiple endocrine tumours
Gene: PRKAR1AEnsemblGeneIds (GRCh38): ENSG00000108946
EnsemblGeneIds (GRCh37): ENSG00000108946
OMIM: 188830, Gene2Phenotype
PRKAR1A is in 20 panels
4 reviews
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Katie Snape (South London GMC)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: All 3 reviewers agree this should be on the green list, and is on the COSMIC consenus gene list.Created: 1 Feb 2016, 12:52 p.m.
Louise IZATT (GSTT Clinical Genetics Service)
Variant analysis already avaialable as part of UKGTNCreated: 16 Oct 2015, 1:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Endocrine Cancer
- OMIM
- 188830
- Clinvar variants
- Variants in PRKAR1A
- Penetrance
- Complete
- Panels with this gene
-
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Osteogenesis imperfecta
- Endocrine neoplasia
- Multiple endocrine tumours
- Congenital hypothyroidism
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Thyroid cancer pertinent cancer susceptibility
- Primary pigmented nodular adrenocortical disease
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Carney complex
- Multiple monogenic benign skin tumours
- Skeletal dysplasia
- Inherited phaeochromocytoma and paraganglioma
- Intellectual disability
- DDG2P
- Parathyroid Cancer
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- Pigmentary skin disorders
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PRKAR1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)PRKAR1A was added to Multiple endocrine tumourspanel. Sources: Emory Genetics Laboratory