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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 19 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

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene PRKAR1A were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene PRKAR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pigmented nodular adrenocortical disease, primary, 1, 610489; Carney complex, type 1, 160980; Acrodysostosis 1, with or without hormone resistance, 101800; Myxoma, intracardiac, 255960 for gene: PRKAR1A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pigmented nodular adrenocortical disease, primary, 1, 610489; Carney complex, type 1, 160980; Acrodysostosis 1, with or without hormone resistance, 101800; Myxoma, intracardiac, 255960 for gene: PRKAR1A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pigmented nodular adrenocortical disease, primary, 1, 610489; Carney complex, type 1, 160980; Acrodysostosis 1, with or without hormone resistance, 101800; Myxoma, intracardiac, 255960 for gene: PRKAR1A

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Acrodysostosis 1, with or without hormone resistance, 101800; Pigmented nodular adrenocortical disease, primary, 1, 610489; Carney complex, type 1, 160980; Myxoma, intracardiac, 255960 for gene: PRKAR1A

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to PRKAR1A.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to PRKAR1A. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PRKAR1A was added gene: PRKAR1A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PRKAR1A was set to