CHKA

choline kinase alpha
OMIM: 118491, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green CHKA in Severe microcephaly Level 2: Neurology Version 8.34 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Abnormal muscle tone Global developmental delay Intellectual disability Seizures Microcephaly Abnormality of movement Abnormality of nervous system morphology Short stature
Green CHKA in DDG2P Version 6.438 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHKA-related neurodevelopmental disorder
Green CHKA in Early onset or syndromic epilepsy Level 2: Neurology Version 8.159 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	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Abnormal muscle tone Global developmental delay Intellectual disability Seizures Microcephaly Abnormality of movement Abnormality of nervous system morphology Short stature
Green CHKA in Intellectual disability Level 2: Developmental disorders Version 9.330 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Abnormal muscle tone Global developmental delay Intellectual disability Seizures Microcephaly Abnormality of movement Abnormality of nervous system morphology Short stature