CACNA1E

calcium voltage-gated channel subunit alpha1 E
OMIM: 601013, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green CACNA1E in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 69 618285
Green CACNA1E in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.149	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 69 618285
Green CACNA1E in Mendeliome Version 1.2302	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 69, MIM#618285
Green CACNA1E in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 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 Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 69, MIM#618285
Green CACNA1E in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 69 618285
Green CACNA1E in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 69, MIM#618285
Green CACNA1E in Fetal anomalies Version 1.313	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Expert list Phenotypes Epileptic encephalopathy, early infantile, 69, MIM#618285