Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.14
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Congenital Cataract
- Cataract 9, multiple types, 604219
- CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1
- CATARACT, NUCLEAR
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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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1
- CATARACT, NUCLEAR
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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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CATARACT, NUCLEAR 123580
- CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 604219
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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
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Cataract 9, multiple types, 604219
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Version 3.79
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Cataract 9, multiple types, OMIM:604219
- Anterior segment dysgenesis, MONDO:0019503
- microphthalmia, MONDO:0021129
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Version 1.184
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Cataract 9, multiple types, 604219
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