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.
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
Arina Puzriakova (Genomics England Curator)
Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)
Group: Other
Workplace: Other
Irina Ziravecka (BKUS)
Group: Other
Workplace: Other
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Green List (high evidence) |
CACNA1A |
2 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Green List (high evidence) |
DAGLA |
2 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Green List (high evidence) |
FRMD7 |
1 review1 green |
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Green List (high evidence) |
GPR143 |
4 reviews2 green |
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Green List (high evidence) |
LRMDA |
3 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Green List (high evidence) |
LYST |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Green List (high evidence) |
OCA2 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Green List (high evidence) |
SLC24A5 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Green List (high evidence) |
SLC45A2 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Green List (high evidence) |
TYR |
3 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Green List (high evidence) |
TYRP1 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red List (low evidence) |
DGUOK |
1 review |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red List (low evidence) |
GNAI3 |
1 review |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red List (low evidence) |
MT-ATP6 |
1 review |
MITOCHONDRIAL |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red List (low evidence) |
MT-CO1 |
1 review |
MITOCHONDRIAL |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red List (low evidence) |
MT-CO3 |
1 review |
MITOCHONDRIAL |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red List (low evidence) |
MT-CYB |
1 review |
MITOCHONDRIAL |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red List (low evidence) |
MT-ND2 |
1 review |
MITOCHONDRIAL |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Red List (low evidence) |
MT-ND6 |
1 review |
MITOCHONDRIAL |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
21/Dec/2016: panel revised according to expert review, addition of green genes from the Ocular and oculo-cutaneous albinism (Version 1.1) gene panel and further curation.