Congenital nystagmus
Gene: NMNAT1

NMNAT1 (nicotinamide nucleotide adenylyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000173614
EnsemblGeneIds (GRCh37): ENSG00000173614
OMIM: 608700, Gene2Phenotype
NMNAT1 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nystagmus is typically a feature of LCA.
Created: 25 Oct 2021, 6:43 a.m. | Last Modified: 25 Oct 2021, 6:43 a.m.

Panel Version: 0.71

Created: 25 Oct 2021, 6:43 a.m.
Last Modified: 25 Oct 2021, 6:43 a.m.
Panel version: 0.71

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

Nystagmus is described to be present at birth or infancy in LCA. However, the reports found were quite variable though it was noted that several were examined as adults and age of onset were not specified.

>20 individuals reported but only 5 with stated congenital onset
Created: 25 Oct 2021, 2:04 a.m. | Last Modified: 25 Oct 2021, 2:04 a.m.

Panel Version: 0.31

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 9 MIM#608553; Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis MIM#619260

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Oct 2021, 2:04 a.m.
Last Modified: 25 Oct 2021, 2:04 a.m.
Panel version: 0.31

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Leber congenital amaurosis 9 MIM#608553
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis MIM#619260

OMIM

608700

Clinvar variants

Variants in NMNAT1

Penetrance

None

Publications

Panels with this gene