Genomics England

CACNA1G

calcium voltage-gated channel subunit alpha1 G

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spinocerebellar ataxia 42, OMIM:616795
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spinocerebellar ataxia 42 616795
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 618087, Spinocerebellar ataxia 42 616795
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION, CACNA1G-related developmental disorder (monoallelic)
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 5.10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spinocerebellar ataxia 42 616795
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spinocerebellar ataxia 42, 616795, early-onset SCA42 with neurodevelopmental deficits, 618087
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Spinocerebellar ataxia 42 616795, Cerebellar atrophy, epilepsy, intellectual disability