PRKACB

protein kinase cAMP-activated catalytic subunit beta
OMIM: 176892, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green PRKACB 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 2, MIM# 619143 Postaxial hand polydactyly Postaxial foot polydactyly Common atrium Atrioventricular canal defect Narrow chest Abnormality of the teeth Intellectual disability
Green PRKACB 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 2, MIM# 619143 Postaxial hand polydactyly Postaxial foot polydactyly Common atrium Atrioventricular canal defect Narrow chest Abnormality of the teeth Intellectual disability
Green PRKACB in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Cardioacrofacial dysplasia 2, MIM# 619143 Postaxial hand polydactyly Postaxial foot polydactyly Common atrium Atrioventricular canal defect Narrow chest Abnormality of the teeth Intellectual disability
Green PRKACB 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 2, MIM# 619143 Postaxial hand polydactyly Postaxial foot polydactyly Common atrium Atrioventricular canal defect Narrow chest Abnormality of the teeth Intellectual disability
Amber PRKACB in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Cardioacrofacial dysplasia 2, MIM# 619143 Postaxial hand polydactyly Postaxial foot polydactyly Common atrium Atrioventricular canal defect Narrow chest Abnormality of the teeth Intellectual disability
Green PRKACB in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Literature Phenotypes Cardioacrofacial dysplasia 2 - MIM#619143