PPP3CA

protein phosphatase 3 catalytic subunit alpha
OMIM: 114105, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green PPP3CA in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.417 Component of the following Super Panels: Neuromuscular Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM #618265
Green PPP3CA in Mendeliome Version 1.2374	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 91, MIM#617711 Arthrogryposis, cleft palate, craniosynostosis and impaired intellectual development, MIM#618265
Green PPP3CA in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 91, MIM#617711
Green PPP3CA in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265 Developmental and epileptic encephalopathy 91 MIM617711
Amber PPP3CA in Fetal anomalies Version 1.314	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genomics England PanelApp Phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265