PPP2R1A

protein phosphatase 2 scaffold subunit Aalpha
OMIM: 605983, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green PPP2R1A in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.151	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 36, MIM#616362 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Green PPP2R1A in Mendeliome Version 1.3512	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 36, MIM#616362 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Green PPP2R1A in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.357	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 36, MIM#616362 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Green PPP2R1A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 36, MIM#616362 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Green PPP2R1A in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 36, MIM#616362 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Green PPP2R1A 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 Mental retardation, autosomal dominant 36, MIM#616362 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Green PPP2R1A in Fetal anomalies Version 1.465	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 36, MIM#616362 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605