Description
Infantile nystagmus inclusion criteria (33485)
•	Nystagmus with onset in early infancy, AND
•	Normal ophthalmological examination with normal VEP and ERG

Infantile nystagmus exclusion criteria (33485)
•	Anterior segment disorders
•	Retinal dystrophies
•	Abnormal ERG and VEP
•	Acquired nystagmus
•	Grade 2 to 4 foveal hypoplasia
•	Structural abnormality found on MRI brain scan

Prior genetic testing guidance (33485)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Infantile nystagmus prior genetic testing genes (33485)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 FRMD7 unless inheritance through paternal line

Closing statement (33485)
These requirements will be kept under continual review during the main programme and may be subject to change.

5 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Penny Clouston (Oxford)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Mervyn Thomas (University of Leicester)

    Group: GeCIP domain
    Workplace: Research lab

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

18 genes

18 reviewed, 10 green

List Gene Reviews Mode of inheritance Details
18 genes
Green Green List (high evidence)
LRMDA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Albinism, oculocutaneous, type VII
Green Green List (high evidence)
CACNA1A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Expert Review Green
Phenotypes
  • CACNA1A-Related Episodic Ataxia Type 2
  • Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated
  • Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia
Green Green List (high evidence)
FRMD7
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
Green Green List (high evidence)
GPR143
4 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ocular albinism, type I, Nettleship-Falls type, 300500
  • Nystagmus 6, congenital, X-linked, 300814
  • Ocular albinism, type I
Green Green List (high evidence)
LYST
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • oculo-cutaneous albinism
  • Chediak-Higashi syndrome
  • optic neuropathy with progressive vision loss
Green Green List (high evidence)
OCA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Oculocutaneous Albinism
  • Albinism, brown oculocutaneous
  • Albinism, oculocutaneous, type II
  • Skin/hair/eye pigmentation 1, blond/brown hair
  • Skin/hair/eye pigmentation 1, blue/nonblue eyes
Green Green List (high evidence)
SLC24A5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Albinism, oculocutaneous, type VI
  • Non-Syndromic Oculocutaneous Albinism
Green Green List (high evidence)
SLC45A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Oculocutaneous albinism type IV,606574
  • skin/hair/eye pigmentation 5,227240
  • Oculocutaneous Albinism
  • Albinism, oculocutaneous, type IV
Green Green List (high evidence)
TYR
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Oculocutaneous Albinism
  • Albinism, oculocutaneous, type IA
  • Albinism, oculocutaneous, type IB
  • Waardenburg syndrome/albinism, digenic
Green Green List (high evidence)
TYRP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Oculocutaneous Albinism
  • Albinism, oculocutaneous, type III
Red Red List (low evidence)
DGUOK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Red
Phenotypes
  • Mitochondrial DNA depletion syndrome 3
Red Red List (low evidence)
GNAI3
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Ocular Albinism
Red Red List (low evidence)
MT-ATP6
1 review
MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinal degeneration and nystagmus
  • Nystagmus
  • Optic neuropathy and nystagmus
Red Red List (low evidence)
MT-CO1
1 review
MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nystagmus
  • Optic neuropathy
Red Red List (low evidence)
MT-CO3
1 review
MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nystagmus
Red Red List (low evidence)
MT-CYB
1 review
MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nystagmus
Red Red List (low evidence)
MT-ND2
1 review
MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinal degeneration and nystagmus
Red Red List (low evidence)
MT-ND6
1 review
MITOCHONDRIAL
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Nystagmus

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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