Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.9
Latest signed off version: v4.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cataract, pulverulent or cerulean, with or without microcornea, 610202
- CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES
- CATARACT CONGENITAL CERULEAN TYPE 4
- CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED (CAPJOM)
- Ayme-Gripp syndrome
- Cataract 21, multiple types
- Cataract pulverulent or cerulean with or without microcornea
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Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.13
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cataract, pulverulent or cerulean, with or without microcornea, 610202
- Cataract 21, multiple types 610202
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Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.46
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Radboud University Medical Center, Nijmegen
- UKGTN
- Literature
Phenotypes
- Cataract 21, multiple types 610202
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES
- CATARACT CONGENITAL CERULEAN TYPE 4
- CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED
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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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES
- CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202
- CATARACT CONGENITAL CERULEAN TYPE 4 610202
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Expert Review
Phenotypes
- Ayme-Gripp syndrome 601088
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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
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
Phenotypes
- CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Cataract 21, multiple types 610202
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Version 1.182
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Ayme-Gripp syndrome, 601088
- Cataract 21, multiple types, 610202
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