Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.15
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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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Microcephaly, short stature, and polymicrogyria with seizures 614833
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Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.67
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Other
- Expert list
Phenotypes
- MCPH
- primary microcephaly
- Microcephaly, short stature, and polymicrogyria with seizures
- Microcephaly,short stature,and polymicrogyria with seizures,614833
- Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures, 614833
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Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- BILATERAL DIFFUSE POLYMICROGYRIA
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Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- BILATERAL DIFFUSE POLYMICROGYRIA 614833
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.193
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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- NIHRBR-RD Consortium SPEED_v3.0_20170404
- Victorian Clinical Genetics Services
- Expert Review
Phenotypes
- Microcephaly, short stature, and polymicrogyria with seizures 614833
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Expert Review Green
Phenotypes
- Microcephaly, short stature, and polymicrogyria with seizures, 614833
- Intellectual disability
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Microcephaly, short stature, and polymicrogyria with seizures, 614833
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