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| Congenital nystagmus v1.21 | MTSS1L | Ain Roesley Phenotypes for gene: MTSS1L were changed from ntellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086 to Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v1.20 | MTSS1L | Ain Roesley Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS2-related (MONDO#0001071) to ntellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v1.16 | MTSS1L | Elena Savva Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS1-related (MONDO#0001071) to Intellectual disability, MTSS2-related (MONDO#0001071) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v1.15 | MTSS1L | Elena Savva Classified gene: MTSS1L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v1.15 | MTSS1L | Elena Savva Gene: mtss1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v1.14 | MTSS1L |
Elena Savva gene: MTSS1L was added gene: MTSS1L was added to Congenital nystagmus. Sources: Literature Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MTSS1L were set to PMID: 36067766 Phenotypes for gene: MTSS1L were set to Intellectual disability, MTSS1-related (MONDO#0001071) Review for gene: MTSS1L was set to GREEN Added comment: Alt gene name: MTSS2 Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals. - Individuals present with nystagmus (3/5), optic atrophy (1/5), ptosis (2/5) - Overexpression supports a DN mechanism Sources: Literature |
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