Genomics England

PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis R-numbers: R293 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes
Green in Carney complex R-numbers: R156 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes
Green in Childhood solid tumours R-numbers: R359 Signed-off version 4.0	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 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 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes ACRODYSOSTOSIS 101800
Green in Endocrine neoplasia R-numbers: R217 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Endocrine Cancer
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes ACRODYSOSTOSIS
Green in Pigmentary skin disorders 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
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 6.16	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Acrodysostosis 1, with or without hormone resistance, OMIM:101800