Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.9
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Spastic paraplegia 42, autosomal dominant, 612539
- Congenital cataracts, hearing loss, and neurodegeneration, 614482
- Congenital cataracts hearing loss and neurodegeneration
- AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.308
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Spastic paraplegia 42, autosomal dominant,
|
Version 4.39
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital cataracts, hearing loss, and neurodegeneration, 614482, AR
- Spastic paraplegia 42, autosomal dominant
|
Version 3.21
Latest signed off version: v3.14
(31 Jul 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Yorkshire and North East GLH
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD
- Spastic paraplegia 42, autosomal dominant
|
Version 4.46
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Spastic paraplegia 42, autosomal dominant,
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Spastic paraplegia 42, autosomal dominant, 612539
- Spasticparaplegia42,autosomaldominant,612539Congenitalcataracts,hearingloss,andneurodegeneration,614482
|
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 Green
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital cataracts, hearing loss, and neurodegeneration, 614482
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.167
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
Not set
|
Sources
Phenotypes
- Congenital cataracts, hearing loss, and neurodegeneration 614482
- Spastic paraplegia 42, autosomal dominant 612539
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Congenital cataracts, hearing loss, and neurodegeneration, 614482
|
Version 1.182
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Congenital cataracts, hearing loss, and neurodegeneration, 614482
- Spastic paraplegia 42, autosomal dominant, 612539
|