Thyroid cancer pertinent 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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Carney complex
- Myxoma (cardiac or cutaneous or breast)
- OMIM
- 188830
- Clinvar variants
- Variants in PRKAR1A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Inherited phaeochromocytoma and paraganglioma
- Skeletal dysplasia
- Osteogenesis imperfecta
- Parathyroid Cancer
- Fetal anomalies
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Carney complex
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- Intellectual disability
- Congenital hypothyroidism
- Endocrine neoplasia
- Multiple endocrine tumours
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- Inherited non-medullary thyroid cancer
- Pigmentary skin disorders
- Thyroid cancer pertinent cancer susceptibility
- Primary pigmented nodular adrenocortical disease
- DDG2P
- Childhood solid tumours cancer susceptibility
History Filter Activity
7 Sep 2018, Gel status: 3
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)This Cancer Germline 100K panel has been subjected to extensive internal and external review and has been versioned to V1 to enable germline reporting in the Cancer Pipeline.
21 Jun 2018, Gel status: 3
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: prkar1a has been classified as Green List (High Evidence).
21 Jun 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PRKAR1A was added to Thyroid cancer pertinent cancer susceptibility panel. Sources: Expert list
21 Jun 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)PRKAR1A was created by Ellen McDonagh