CACNA1G

calcium voltage-gated channel subunit alpha1 G
OMIM: 604065, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green CACNA1G in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.67 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 42 616795
Green CACNA1G in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Spinocerebellar ataxia 42, 61679
Green CACNA1G in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.86	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Spinocerebellar ataxia 42 616795 Tags missense
Green CACNA1G in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.16 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Spinocerebellar ataxia 42, OMIM:616795
Green CACNA1G in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.157 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087
Green CACNA1G in DDG2P Version 6.426 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 AUTOSOMAL RECESSIVE MENTAL RETARDATION CACNA1G-related developmental disorder (monoallelic)
Green CACNA1G in Early onset or syndromic epilepsy Level 2: Neurology Version 8.147 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 Literature Phenotypes Spinocerebellar ataxia 42 616795 Tags missense
Green CACNA1G in Intellectual disability Level 2: Developmental disorders Version 9.304 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 Phenotypes Spinocerebellar ataxia 42 616795 Cerebellar atrophy, epilepsy, intellectual disability
Green CACNA1G in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.26 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 42, 616795 early-onset SCA42 with neurodevelopmental deficits, 618087
Green CACNA1G in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH Phenotypes Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 618087 Spinocerebellar ataxia 42 616795