CACNA2D1

calcium voltage-gated channel auxiliary subunit alpha2delta 1
OMIM: 114204, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red CACNA2D1 in Sudden death in young people Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 1.16	review	Unknown	Sources Expert Review Red Literature Phenotypes Sudden death cardiac arrhythmia
Amber CACNA2D1 in Short QT syndrome Level 2: Cardiology Version 3.16 Latest signed off version: v3.14 (30 Apr 2025) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber South West GLH London South GLH North West GLH UKGTN Brugada syndrome (Version 1.7) Literature Phenotypes short qt Brugada syndrome aborted sudden death Short QT syndrome 6 Tags watchlist
Red CACNA2D1 in Brugada syndrome and cardiac sodium channel disease Level 2: Cardiology Version 3.14 Latest signed off version: v3.12 (30 Apr 2025) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	Unknown	Sources South West GLH London South GLH North West GLH Expert Review Red Expert list Phenotypes Brugada syndrome, MONDO:0015263
Red CACNA2D1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red DD-Gene2Phenotype Phenotypes CACNA2D1-related neurodevelopmental disorder
Amber CACNA2D1 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Early onset developmental epilepsy
Green CACNA2D1 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Literature Phenotypes Abnormal muscle tone Feeding difficulties Global developmental delay Intellectual disability Seizures Microcephaly Abnormality of the corpus callosum Cerebral atrophy Abnormality of movement Cortical visual impairment Pain insensitivity