PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha
OMIM: 188830, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green PRKAR1A in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Acrodysostosis 1, with or without hormone resistance, MIM# 101800 Carney complex, type 1, MIM# 160980 Myxoma, intracardiac, MIM# 255960 Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489
Green PRKAR1A in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.131	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PRKAR1A in Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy Level 2: Endocrine disorders Version 0.13	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PRKAR1A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Acrodysostosis 1, with or without hormone resistance, MIM#101800
Green PRKAR1A in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Pigmented nodular adrenocortical disease, primary, 1 610489 Acrodysostosis 1, with or without hormone resistance 101800 Myxoma, intracardiac 255960
Red PRKAR1A in CGC_86 Version 0.2	review	Other	Sources CGC_86 Phenotypes Carney complex
Red PRKAR1A in NCGC Version 0.2	review	Other	Sources NCGC Phenotypes Carney complex
Red PRKAR1A in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Carney complex
Green PRKAR1A in Schwannomatosis Level 2: Neurology and neurodevelopmental disorders Version 0.16	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Carney complex, type 1 MIM#160980
Green PRKAR1A in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Carney complex
Green PRKAR1A in Incidentalome_PREGEN_DRAFT Version 0.43	review	Unknown	Sources NSW Health Pathology Expert Review Green
Green PRKAR1A in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 0.43	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Genomics England PanelApp Expert Review Green Phenotypes Acrodysostosis, mild hormone resistance (TSH, PTH, GPCR-cAMP signalling hormones Acrodysostosis 1, with or without hormone resistance, 101800
Green PRKAR1A in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.74 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Myxoma, intracardiac 255960 Acrodysostosis 1, with or without hormone resistance 101800 Pigmented nodular adrenocortical disease, primary, 1 610489
Green PRKAR1A in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Acrodysostosis 1, with or without hormone resistance, MIM#101800
Green PRKAR1A in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene Phenotypes Carney complex, type 1, MIM# 160980 Tags cancer treatable