Genomics England

CASK

calcium/calmodulin dependent serine protein kinase

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Albinism or congenital nystagmus R-numbers: R39 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Mental retardation, with or without nystagmus 300422, Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD, FG syndrome 4 300422
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	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 in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes MENTAL RETARDATION X-LINKED CASK-RELATED 300749, FG SYNDROME TYPE 4 300422, MRX WITH/WITHOUT NYSTAGMUS 300749
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 5.10	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749, Mental retardation, with or without nystagmus 300422
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes MRX WITH/WITHOUT NYSTAGMUS, MENTAL RETARDATION X-LINKED CASK-RELATED, FG SYNDROME TYPE 4
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes FG syndrome 4, 300422, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	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 in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 5.4	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM:300749
Green in Severe microcephaly R-numbers: R88 Signed-off version 5.7	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	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