Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0
(1 May 2024)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Literature
Phenotypes
- Microcephaly 27, primary, autosomal dominant, OMIM:619180
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Literature
- Expert Review
Phenotypes
- Microcephaly 27, primary, autosomal dominant, OMIM:619180
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- LMNB2-related Primary Microcephaly
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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
- NHS GMS
- Expert Review Red
- Wessex and West Midlands GLH
Phenotypes
- ?Epilepsy, progressive myoclonic, 9, OMIM:616540
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Microcephaly 27, primary, autosomal dominant, OMIM:619180
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