Genomics England
GMS Panels
Panels
Genes and Entities

CHKA

choline kinase alpha
OMIM: 118491
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHKA-related neurodevelopmental disorder
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, Microcephaly, Abnormality of movement, Abnormality of nervous system morphology, Short stature
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, Microcephaly, Abnormality of movement, Abnormality of nervous system morphology, Short stature
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, Microcephaly, Abnormality of movement, Abnormality of nervous system morphology, Short stature