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
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Primary Congenital Glaucoma
- Glaucoma 3, primary congenital, D 613086
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
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Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.13
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 251750
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Version 3.10
Latest signed off version: v3.2
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, OMIM:251750
- Glaucoma 3, primary congenital, D, OMIM:613086
- Weill-Marchesani syndrome 3, recessive, OMIM:614819
Tags
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Version 3.11
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 Red
- South West GLH
- South West GLH
Phenotypes
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Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.127
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- South West GLH
- Literature
Phenotypes
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
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
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Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.12
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, OMIM:251750
- Glaucoma 3, primary congenital, D, OMIM:613086
- Weill-Marchesani syndrome 3, recessive, OMIM:614819
Tags
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- MICROSPHEROPHAKIA
- PRIMARY CONGENITAL GLAUCOMA TYPE 3D
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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
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MICROSPHEROPHAKIA 251750
- PRIMARY CONGENITAL GLAUCOMA TYPE 3D 613086
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
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
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Glaucoma 3, primary congenital, D, 613086
- Microspherophakia
- and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750
- Weill-Marchesani syndrome 3, recessive, 614819
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Version 3.79
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Glaucoma 3, primary congenital, D 613086
- Primary Congenital Glaucoma
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Version 1.184
|
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
- ?Weill-Marchesani syndrome 3, recessive, 614819
- Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750
- Glaucoma 3, primary congenital, D, 613086
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