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| Albinism or congenital nystagmus v3.5 | ROBO1 | Arina Puzriakova Added comment: Comment 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v3.5 | ROBO1 | Arina Puzriakova Phenotypes for gene: ROBO1 were changed from nystagmus, congenital, autosomal recessive, MONDO:0009762 to ?Nystagmus 8, congenital, autosomal recessive, OMIM:257400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v2.4 | ROBO1 |
Achchuthan Shanmugasundram 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 Added comment: 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 |
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