CACNA1G

calcium voltage-gated channel subunit alpha1 G
OMIM: 604065
PanelMode of inheritanceDetails
8 panels
R-numbers: R58
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 42, OMIM:616795
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
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)
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
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
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
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