Albinism or congenital nystagmus
Gene: ROBO1Comment on phenotypes: This gene is now associated with a relevant phenotype in OMIM (?Nystagmus 8, congenital, autosomal recessive, OMIM:257400). OMIM have only listed the publications already considered (PMID: 35348658) and therefore there is no new evidence to warrant further review.Created: 20 Mar 2024, 12:11 p.m. | Last Modified: 20 Mar 2024, 12:11 p.m.
Panel Version: 3.5
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: LiteratureCreated: 22 Feb 2023, 5:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
nystagmus, congenital, autosomal recessive, MONDO:0009762
Publications
Phenotypes for gene: ROBO1 were changed from nystagmus, congenital, autosomal recessive, MONDO:0009762 to ?Nystagmus 8, congenital, autosomal recessive, OMIM:257400
gene: ROBO1 was added gene: ROBO1 was added to Albinism or 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