Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
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review
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Not set
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Sources
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- UKGTN
Phenotypes
- Cerebral Malformation Disorders
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Version 4.58
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
- XLMR with Cerebellar Hypoplasia and Distinctive Facial Appearance
- Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
- Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
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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)
|
Sources
- Expert Review Green
- UKGTN
Phenotypes
- Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
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Version 0.36
|
review
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Not set
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Sources
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.73
|
review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Other
- Eligibility statement prior genetic testing
Phenotypes
- Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
- XLMR with Cerebellar Hypoplasia and Distinctive Facial Appearance
- Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
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Version 4.46
Latest signed off version: v4.34
(31 Jul 2023)
|
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
- Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MENTAL RETARDATION X-LINKED OPHN1-RELATED 300486
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
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
|
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
Phenotypes
- Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 300486
- MENTAL RETARDATION X-LINKED OPHN1-RELATED
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
- MENTAL RETARDATION X-LINKED OPHN1-RELATED (MRXSO)
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Version 4.30
Latest signed off version: v4.0
(22 Mar 2023)
|
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
- Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
- X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.182
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
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