Genomics England
GMS Panels
Panels
Genes and Entities

PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha
OMIM: 188830
PanelMode of inheritanceDetails
7 panels
Green
in Congenital hypothyroidism
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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACRODYSOSTOSIS 101800
Green
in Fetal anomalies
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACRODYSOSTOSIS
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PPNAD1, CARNEY COMPLEX, TYPE 1, Carney complex, CNC1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1
Green
in Primary pigmented nodular adrenocortical disease
R-numbers: R160
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pigmented nodular adrenocortical disease, primary, 1, 610489
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Acrodysostosis 1, with or without hormone resistance 101800, Myxoma, intracardiac 255960, Pigmented nodular adrenocortical disease, primary, 1 610489
Green
in Tumour predisposition - childhood onset
R-numbers: R359
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial Primary Pigmented Nodular Adrenocortical disease, Carney Complex