CASK

calcium/calmodulin dependent serine protein kinase
OMIM: 300172, ClinGen, DECIPHER

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Red CASK in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes FG syndrome 4, MIM# 300422 Mental retardation, with or without nystagmus, MIM# 300422
Green CASK in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749
Green CASK in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 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 Literature Phenotypes Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749
Green CASK in Mendeliome Version 2.0	1 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 Victorian Clinical Genetics Services Phenotypes FG syndrome 4 MIM#300422 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749 Mental retardation, with or without nystagmus MIM#300422
Green CASK in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749
Green CASK in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	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 Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes FG syndrome 4 MIM#300422 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749 Mental retardation, with or without nystagmus MIM#300422
Green CASK in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CASK in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CASK in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes FG syndrome 4 MIM#300422 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749 Intellectual disability, with or without nystagmus MIM#300422
Green CASK in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 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 Royal Melbourne Hospital Phenotypes FG syndrome 4, 300422 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749
Green CASK in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mental retardation, with or without nystagmus
Green CASK in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Red CASK in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	Unknown	Sources Expert Review Red Phenotypes MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA MICPCH
Green CASK in Congenital nystagmus Level 2: Ophthalmological disorders Version 2.0	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Genomics England PanelApp NHS Genomic Medicine Service Phenotypes Mental retardation, with or without nystagmus, MIM# 300422
Green CASK in Fetal anomalies Version 2.0	1 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 Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes FG syndrome 4, MIM# 300422 Mental retardation, with or without nystagmus, MIM# 300422 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749
Green CASK in Prepair 1000+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes X-linked syndromic intellectual disability MONDO:0020119
Red CASK in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 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 BabySeq Category A gene Phenotypes FG syndrome 4 MIM#300422 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749 Mental retardation, with or without nystagmus MIM#300422
Green CASK in Prepair 500+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes X-linked syndromic intellectual disability MONDO:0020119