PRKACA

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

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green PRKACA in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	2 reviews	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 1.62	1 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 1.2302	2 reviews	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 0.281 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	2 reviews	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 1.313	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert list Phenotypes Cardioacrofacial dysplasia 1-MIM#619142