Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.148
Latest signed off version: v2.2
(25 Feb 2020)
Component of the following Super Panels:
Cerebral malformations
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Microcephaly 5, primary, autosomal recessive 608716
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Version 0.22
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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 2.315
Latest signed off version: v2.2
(2 Mar 2020)
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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
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Eligibility statement prior genetic testing
- Other
Phenotypes
- Microcephaly 5, primary, autosomal recessive
- MCPH
- primary microcephaly
- Primary Microcephaly, Recessive
- Autosomal recessive primary microcephaly (MCPH)
- Microcephaly 5, primary, autosomal recessive, 608716
- Microcephaly 5, Primary, Autosomal Recessive
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Version 1.880
Latest signed off version: v1.92
(21 Aug 2020)
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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
- PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
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Version 2.76
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1651
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Microcephaly 5, primary, autosomal recessive, 608716
- PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
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Version 1.127
|
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 5, primary, autosomal recessive, 608716
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