Genomics England
GMS Panels
Panels
Genes and Entities

CACNA1D

calcium voltage-gated channel subunit alpha1 D
OMIM: 114206
PanelMode of inheritanceDetails
4 panels
Green
in Congenital hyperinsulinism
R-numbers: R144
Signed-off version 3.7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hyperinsulinaemic hypoglycaemia, heart defects, severe hypotonia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 615474, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 614896
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 9.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474, aldosterone-producing adenoma with seizures and neurological abnormalities, MONDO:0014200
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474, aldosterone-producing adenoma with seizures and neurological abnormalities, MONDO:0014200