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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Other
- Expert list
Phenotypes
- MCPH
- primary microcephaly
- Microcephaly and chorioretinopathy, autosomal recessive, 2
- MCCRP2
- Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171
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Version 3.11
Latest signed off version: v3.10
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Microcephaly and chorioretinopathy, autosomal recessive 2 OMIM:616171
- microcephaly and chorioretinopathy 2 MONDO:0014516
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
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
- Microcephalic primordial dwarfism
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
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
- MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY 616171
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Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171
- microcephaly and chorioretinopathy 2, MONDO:0014516
Tags
|
Version 3.95
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
- Expert Review Green
- Literature
Phenotypes
- Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.9
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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
Phenotypes
- MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY
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Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- RetNet
Phenotypes
- Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171
- microcephaly and chorioretinopathy 2, MONDO:0014516
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Version 3.79
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171
- microcephaly and chorioretinopathy 2, MONDO:0014516
Tags
|
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 and chorioretinopathy, autosomal recessive, 2, 616171
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