PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha
OMIM: 188830
PanelMode of inheritanceDetails
10 panels
R-numbers: R293
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
R-numbers: R156
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
R-numbers: R359
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial Primary Pigmented Nodular Adrenocortical disease, Carney Complex
R-numbers: R145
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acrodysostosis, mild hormone resistance (TSH, PTH, GPCR-cAMP signalling hormones, Acrodysostosis 1, with or without hormone resistance, 101800
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACRODYSOSTOSIS 101800
R-numbers: R217
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Endocrine Cancer
R-numbers: R21, R412
Signed-off version 3.122
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACRODYSOSTOSIS
R-numbers: R236
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PPNAD1, CARNEY COMPLEX, TYPE 1, Carney complex, CNC1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1
R-numbers: R160
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pigmented nodular adrenocortical disease, primary, 1, 610489
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.31
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acrodysostosis 1, with or without hormone resistance, OMIM:101800