Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset
- 231300
- Peters anomaly, 604229
- Primary Congenital Glaucoma
- Glaucoma 3, Primary Congenital, A
- GLC3A
- primary congenital glaucoma
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- PRIMARY CONGENITAL GLAUCOMA TYPE 3A
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Version 3.79
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
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300
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Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51
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review
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Not set
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Sources
- Emory Genetics Laboratory
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Glaucoma 3A, primary open angle, congenital, juvenile, or adult
- onset, 231300
- Peters anomaly, 604229
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.81
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
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Sources
- NHS GMS
- Expert Review Red
Phenotypes
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Primary Congenital Glaucoma
- Peters anomaly, 604229
- Glaucoma 3, Primary Congenital, A
- Glaucoma 3, Primary Congenital, A, GLC3A, 231300
- Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset
- GLC3A
- primary congenital glaucoma
- 231300
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Version 1.182
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300
- Anterior segment dysgenesis 6, multiple subtypes, 617315
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