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  3. ROBO1
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Congenital nystagmus

Gene: ROBO1

Red List (low evidence)
ROBO1 (roundabout guidance receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000169855
EnsemblGeneIds (GRCh37): ENSG00000169855
OMIM: 602430, Gene2Phenotype
ROBO1 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nystagmus 8, congenital, autosomal recessive, MIM# 257400

Created: 9 Apr 2023, 8:18 a.m.
Last Modified: 9 Apr 2023, 8:18 a.m.
Panel version: 1.17

Achchuthan Shanmugasundram (Genomics England)

Red List (low evidence)

Comment on classification of gene: This gene should be rated RED as this gene has been associated with nystagmus from only one family.

PMID:35348658 reported three male siblings from the same family with nystagmus and they were identified with a homozygous missense variant p.Ser1522Leu.

This gene has not yet been associated with any phenotypes either in OMIM or Gene2Phenotype.
Sources: Literature
Created: 22 Feb 2023, 5:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
nystagmus, congenital, autosomal recessive, MONDO:0009762

Publications

Created: 22 Feb 2023, 5:17 p.m.

Panel version: 1.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • nystagmus, congenital, autosomal recessive, MONDO:0009762
OMIM
602430
Clinvar variants
Variants in ROBO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Apr 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: robo1 has been classified as Red List (Low Evidence).

9 Apr 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: robo1 has been classified as Red List (Low Evidence).

22 Feb 2023, Gel status: 0

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

Achchuthan Shanmugasundram (Genomics England)

gene: ROBO1 was added gene: ROBO1 was added to Congenital nystagmus. Sources: Literature Mode of inheritance for gene: ROBO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROBO1 were set to 35348658 Phenotypes for gene: ROBO1 were set to nystagmus, congenital, autosomal recessive, MONDO:0009762 Review for gene: ROBO1 was set to RED