Congenital nystagmus

Gene: LRAT

Amber List (moderate evidence)

LRAT (lecithin retinol acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000121207
EnsemblGeneIds (GRCh37): ENSG00000121207
OMIM: 604863, Gene2Phenotype
LRAT is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Leber congenital amaurosis 14, MIM#613341
OMIM
604863
Clinvar variants
Variants in LRAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrat has been classified as Amber List (Moderate Evidence).

25 Oct 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LRAT were changed from to Leber congenital amaurosis 14, MIM#613341

25 Oct 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LRAT were set to

25 Oct 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LRAT was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrat has been classified as Amber List (Moderate Evidence).

6 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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