CACNA1E

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

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green CACNA1E in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 69, 618285 congenital joint contractures
Green CACNA1E in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia Tags watchlist
Red CACNA1E in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes craniosynostosis, MONDO:0015469
Green CACNA1E in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia
Green CACNA1E in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature Expert Review Phenotypes Global developmental delay Intellectual disability Seizures Dystonia Congenital contracture Macrocephaly
Green CACNA1E in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Expert Review Phenotypes Global developmental delay Intellectual disability Seizures Dystonia Congenital contracture Macrocephaly Epileptic encephalopathy, early infantile, 69, 618285