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  3. LRIT3
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Congenital nystagmus

Gene: LRIT3

Red List (low evidence)
LRIT3 (leucine rich repeat, Ig-like and transmembrane domains 3)
EnsemblGeneIds (GRCh38): ENSG00000183423
EnsemblGeneIds (GRCh37): ENSG00000183423
OMIM: 615004, Gene2Phenotype
LRIT3 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families and two supportive animal models.
Created: 25 Oct 2021, 6:53 a.m. | Last Modified: 25 Oct 2021, 6:53 a.m.
Panel Version: 0.9470

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Night blindness, congenital stationary (complete), 1F, autosomal recessive, MIM# 615058

Publications

Created: 25 Oct 2021, 6:53 a.m.
Last Modified: 25 Oct 2021, 6:53 a.m.
Panel version: Imported from Mendeliome panel version 0.9470

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID:27428514;
2x unrelated families, no nystagmus reported

PMID:27428514;
1x with Schubert-Bornschein congenital stationary night blindness. Diagnostic criteria includes nystagmus though age of onset not specified
Created: 25 Oct 2021, 12:23 a.m. | Last Modified: 25 Oct 2021, 12:32 a.m.
Panel Version: 0.31

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Night blindness, congenital stationary (complete), 1F MIM#615058

Publications

Created: 25 Oct 2021, 12:23 a.m.
Last Modified: 25 Oct 2021, 12:32 a.m.
Panel version: 0.31

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058
OMIM
615004
Clinvar variants
Variants in LRIT3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrit3 has been classified as Red List (Low Evidence).

25 Oct 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LRIT3 were set to

25 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrit3 has been classified as Red List (Low Evidence).

6 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRIT3 was added gene: LRIT3 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: LRIT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRIT3 were set to Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058