Genomics England
GMS Panels
Panels
Genes and Entities

PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha
OMIM: 188830
PanelMode of inheritanceDetails
10 panels
Green
in Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
R-numbers: R293
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acrodysostosis type 1, OMIM:101800, Acrodysostosis 1 with or without hormone resistance, MONDO:0007044
Green
in Carney complex
R-numbers: R156
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Carney complex, OMIM:160980, Carney complex, type 1, MONDO:0008057
Green
in Childhood solid tumours
Signed-off version 5.11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial Primary Pigmented Nodular Adrenocortical disease, Carney Complex
Green
in Congenital hypothyroidism
R-numbers: R145
Signed-off version 4.0
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 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACRODYSOSTOSIS 101800
Green
in Endocrine neoplasia
R-numbers: R217
Signed-off version 3.8
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Endocrine Cancer
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ACRODYSOSTOSIS
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 5.12
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 1.12
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pigmented nodular adrenocortical disease, primary, 1, OMIM:610489
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 10.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acrodysostosis 1, with or without hormone resistance, OMIM:101800