Version 4.64
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
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
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- Expert Review Green
- UKGTN
Phenotypes
- FG syndrome 4, 300422
- Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Cerebral malformation
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM:300749
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Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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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
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Version 0.36
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review
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Not set
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Sources
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Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.82
Latest signed off version: v4.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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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
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.73
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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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
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Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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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
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Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.9
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Amber
- Expert list
Phenotypes
- anorectal malformation
- FG syndrome 4 300422
Tags
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Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MRX WITH/WITHOUT NYSTAGMUS
- MENTAL RETARDATION X-LINKED CASK-RELATED
- FG SYNDROME TYPE 4
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Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MENTAL RETARDATION X-LINKED CASK-RELATED 300749
- FG SYNDROME TYPE 4 300422
- MRX WITH/WITHOUT NYSTAGMUS 300749
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.110
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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Not set
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Sources
Phenotypes
- MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
- MICPCH
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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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
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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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)
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Version 4.34
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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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
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Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.184
|
review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
- FG syndrome 4, 300422
- Mental retardation, with or without nystagmus, 300422
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