CAMK2A

calcium/calmodulin dependent protein kinase II alpha
OMIM: 114078, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green CAMK2A in Mendeliome Version 2.22	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 63 MIM#618095 Mental retardation, autosomal dominant 53 MIM#617798
Green CAMK2A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.2 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes ?Mental retardation, autosomal recessive 63 MIM#618095 Mental retardation, autosomal dominant 53 MIM#617798
Green CAMK2A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.1	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal recessive 63 MIM#618095 Mental retardation, autosomal dominant 53 MIM#617798
Red CAMK2A in Fetal anomalies Version 2.0	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mental retardation, autosomal recessive 63 MIM#618095 Mental retardation, autosomal dominant 53 MIM#617798
No list CAMK2A in Speech apraxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert List Phenotypes Intellectual disability 53 (MIM#617798).