PRKACA

protein kinase cAMP-activated catalytic subunit alpha
OMIM: 601639, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green PRKACA in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Cardioacrofacial dysplasia 1, MIM# 619142 Postaxial hand polydactyly Postaxial foot polydactyly Common atrium Atrioventricular canal defect Narrow chest Abnormality of the teeth Intellectual disability
Green PRKACA in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cardioacrofacial dysplasia 1, MIM# 619142 Postaxial hand polydactyly Postaxial foot polydactyly Common atrium Atrioventricular canal defect Narrow chest Abnormality of the teeth Intellectual disability
Green PRKACA in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Cardioacrofacial dysplasia 1, MIM# 619142 Postaxial hand polydactyly Postaxial foot polydactyly Common atrium Atrioventricular canal defect Narrow chest Abnormality of the teeth Intellectual disability
Green PRKACA in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.276 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Cardioacrofacial dysplasia 1, MIM# 619142 Postaxial hand polydactyly Postaxial foot polydactyly Common atrium Atrioventricular canal defect Narrow chest Abnormality of the teeth Intellectual disability
Green PRKACA in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert list Phenotypes Cardioacrofacial dysplasia 1-MIM#619142