PRKAR1A

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

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green PRKAR1A in Mendeliome Version 1.3512	1 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 0.132	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PRKAR1A in Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy Level 2: Endocrine disorders Version 0.33	1 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
Green PRKAR1A in Additional findings_Adult Level 2: Screening Version 1.130	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Carney complex, type 1, MIM# 160980
Green PRKAR1A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 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 0.346	1 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
Green PRKAR1A in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	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	0 reviews	Unknown	Sources NSW Health Pathology Expert Review Green
Green PRKAR1A in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 0.53	0 reviews	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 0.78 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	0 reviews	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 1.465	1 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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 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
Green PRKAR1A in Schwannoma Level 2: Cancer Predisposition Version 1.1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Schwannoma, MONDO:0002546 Carney complex type 1, MONDO:0008057 Carney complex, type 1, MIM#160980
Green PRKAR1A in Thyroid Cancer Level 2: Cancer Predisposition Version 1.1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Thyroid cancer, MONDO:0002108 Thyroid gland follicular carcinoma, MONDO:0005034 Carney complex type 1, MONDO:0008057 Carney complex, type 1, MIM#160980
Green PRKAR1A in Pituitary Tumour Level 2: Cancer Predisposition Version 1.1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Pituitary tumor, MONDO:0017611 Pituitary gland adenoma, MONDO:0006373 Carney complex type 1, MONDO:0008057 Carney complex, type 1, MIM#160980
Red PRKAR1A in Paraganglioma_phaeochromocytoma Level 2: Cancer Predisposition Version 1.1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Expert Review Expert list Phenotypes Paraganglioma, MONDO:0000448 Pheochromocytoma, MONDO:0008233 Carney complex, type 1, MIM#160980
Green PRKAR1A in Hereditary Pigmentary Disorders Level 2: Dermatological disorders Version 1.3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Carney complex, type 1 MONDO:0008057
Green PRKAR1A in Primary pigmented nodular adrenocortical disease Level 3: Adrenal disorders Level 2: Endocrine disorders; Cancer Predisposition Version 0.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List Phenotypes Pigmented nodular adrenocortical disease, primary, 1, MONDO:0012509 Carney complex type 1, MONDO:0008057