Congenital nystagmus
Gene: LRAT
The LCA phenotype is typically associated with nystagmus, at least two reports.Created: 25 Oct 2021, 7 a.m. | Last Modified: 25 Oct 2021, 7 a.m.
Panel Version: 0.78
Phenotypes
Leber congenital amaurosis 14, MIM#613341
NOTE: same MIM# for all 3 phenotypes
Majority of reports either presented later in life or none at all. >20 individuals reported with variants in LRAT.
Below are reports mentioning nystagmus
PMID:11381255;
25-year-old man who had nystagmus (age of onset unclear?) and was diagnosed with retinal degeneration at age 3.
PMID:18055821;
1x LCA (onset of nystagmus within the first few weeks of life) and 1x RP (age of onset not provided - diagnostic criteria is <6 yrs old)
PMID:22570351
1x developing later in life
PMID;31448181;
1x light-gazing and nystagmus were noticed by the parents during the first months of life.Created: 25 Oct 2021, 12:17 a.m. | Last Modified: 25 Oct 2021, 12:17 a.m.
Panel Version: 0.31
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leber congenital amaurosis 14 MIM#613341; Retinal dystrophy, early-onset severe MIM#613341; Retinitis pigmentosa, juvenile MIM#613341
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: lrat has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: LRAT were changed from to Leber congenital amaurosis 14, MIM#613341
Publications for gene: LRAT were set to
Mode of inheritance for gene: LRAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: lrat has been classified as Amber List (Moderate Evidence).
gene: LRAT was added gene: LRAT was added to Congenital nystagmus. Sources: Expert Review Green,Expert list Mode of inheritance for gene: LRAT was set to