CASK

calcium/calmodulin dependent serine protein kinase
OMIM: 300172, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green CASK in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.32 Latest signed off version: v9.22 (12 Aug 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes FG syndrome 4, 300422 Mental retardation, with or without nystagmus Mental retardation and microcephaly with pontine and cerebellar hypoplasia Pontocerebellar Hypoplasia FG syndrome 4 Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 Mental retardation, with or without nystagmus, 300422
Green CASK in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.345	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green UKGTN Phenotypes FG syndrome 4, 300422 Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Green CASK in Malformations of cortical development Level 2: Neurology Version 8.8 Latest signed off version: v8.6 (12 Aug 2026) Component of the following Super Panels: Cerebral malformation Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM:300749
Green CASK in Albinism or congenital nystagmus Level 2: Ophthalmology Version 4.13 Latest signed off version: v4.12 (12 Aug 2026)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Mental retardation, with or without nystagmus 300422 Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD FG syndrome 4 300422
Green CASK in Severe microcephaly Level 2: Neurology Version 9.26 Latest signed off version: v9.13 (12 Aug 2026)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Other Emory Genetics Laboratory Phenotypes CASK-related XLID severe intellectual disability, brainstem and cerebellar hypoplasia, and microcephaly Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 MICPCH Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia, 300749
Green CASK in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.87	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Other Eligibility statement prior genetic testing Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia FG syndrome 4 Mental retardation, with or without nystagmus Pontocerebellar Hypoplasia Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 FG syndrome 4, 300422 Mental retardation, with or without nystagmus, 300422
Red CASK in Neurodegenerative disorders, adult onset Level 2: Neurology Version 9.11 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes FG syndrome 4, 300422 Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Amber CASK in Non-syndromic familial congenital anorectal malformations Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.14	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert list Phenotypes anorectal malformation FG syndrome 4 300422 Tags watchlist
Green CASK in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MRX WITH/WITHOUT NYSTAGMUS MENTAL RETARDATION X-LINKED CASK-RELATED FG SYNDROME TYPE 4
Green CASK in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED CASK-RELATED 300749 FG SYNDROME TYPE 4 300422 MRX WITH/WITHOUT NYSTAGMUS 300749
Red CASK in Clefting Level 2: Musculoskeletal Version 7.10 Latest signed off version: v7.8 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert Review Red Phenotypes MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA MICPCH
Green CASK in Early onset or syndromic epilepsy Level 2: Neurology Version 9.74 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Expert Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 Mental retardation, with or without nystagmus 300422
Green CASK in Intellectual disability Level 2: Developmental disorders Version 11.28 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749FG syndrome 4, 300422Mental retardation, with or without nystagmus, 300422 MENTAL RETARDATION X-LINKED CASK-RELATED (MRXCASK)
Green CASK in Hereditary ataxia, adult onset Level 2: Neurology Version 9.11 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes FG syndrome 4, 300422 Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Red CASK in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	Not set	Sources Expert Review Red London North GLH