Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.10
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
Phenotypes
- (not relevant if inheritance through paternal line)
- Nystagmus 1, congenital, X-linked, 310700
- Nystagmus, infantile periodic alternating, X-linked, 310700
- Infantile Nystagmus
- Nystagmus 1, Congenital, X-Linked
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Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
Phenotypes
- Nystagmus 1, Congenital, X-Linked
- Infantile Nystagmus
- Nystagmus, infantile periodic alternating, X-linked, 310700
- Nystagmus 1, congenital, X-linked, 310700
- (not relevant if inheritance through paternal line)
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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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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- NYSTAGMUS 1, CONGENITAL, X-LINKED
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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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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Red
- DD-Gene2Phenotype
Phenotypes
- NYSTAGMUS 1, CONGENITAL, X-LINKED 310700
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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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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Red
- Expert Review Red
Phenotypes
- Nystagmus 1, congenital, X-linked 310700
- Nystagmus, infantile periodic alternating, X-linked 310700
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Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0
(1 May 2024)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Nystagmus 1, congenital, X-linked, OMIM:310700
- Nystagmus, infantile periodic alternating, X-linked, OMIM:310700
- foveal hypoplasia, MONDO:0044203
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Version 1.184
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Nystagmus 1, congenital, X-linked, 310700
- Nystagmus, infantile periodic alternating, X-linked, 310700
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