Genomics England

choline kinase alpha

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	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 6.9	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 7.51	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 6.8	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