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Severe Paediatric Disorders

Gene: PRKAR1A

Green List (high evidence)

PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000108946
EnsemblGeneIds (GRCh37): ENSG00000108946
OMIM: 188830, Gene2Phenotype
PRKAR1A is in 21 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PRKAR1A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Acrodysostosis 1, with or without hormone resistance, 101800 (3) | Carney complex, type 1, 160980 (3) | Myxoma, intracardiac, 255960 (3) | Pigmented nodular adrenocortical disease, primary, 1, 610489 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Pigmented nodular adrenocortical disease, primary, 1, 610489
  • Carney complex, type 1, 160980
  • Acrodysostosis 1, with or without hormone resistance, 101800
  • Myxoma, intracardiac, 255960
OMIM
188830
Clinvar variants
Variants in PRKAR1A
Penetrance
None
Publications
Panels with this gene