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| Mendeliome v2.334 | FSD1L | Zornitza Stark edited their review of gene: FSD1L: Added comment: In 6 individuals from 4 families, the findings were isolated to RP, hence second OMIM# added.; Changed phenotypes: Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643, Retinitis pigmentosa 109, MIM# 621656 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.182 | FSD1L | Zornitza Stark Phenotypes for gene: FSD1L were changed from Neurodevelopmental disorder, MONDO:0700092, FSD1L-related to Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.181 | FSD1L | Zornitza Stark Publications for gene: FSD1L were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.180 | FSD1L | Zornitza Stark edited their review of gene: FSD1L: Added comment: Now published, 11 probands from 6 families reported. Key clinical features include severe intellectual disability, spastic tetraparesis, reduced vision, and epilepsy, severe hydrocephalus, corpus callosum agenesis/hypoplasia, mild ventricular dilation, optic nerve hypoplasia, and white matter reduction.; Changed publications: 41720098 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.180 | FSD1L | Zornitza Stark reviewed gene: FSD1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.0 | FSD1L | Gene migrated from ENSG00000106701 to ENSG00000106701 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1023 | FSD1L | Zornitza Stark Marked gene: FSD1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1023 | FSD1L | Zornitza Stark Gene: fsd1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1023 | FSD1L | Zornitza Stark Phenotypes for gene: FSD1L were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, FSD1L-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.981 | FSD1L | chirag patel Classified gene: FSD1L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.981 | FSD1L | chirag patel Gene: fsd1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.980 | FSD1L |
chirag patel gene: FSD1L was added gene: FSD1L was added to Mendeliome. Sources: Other Mode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FSD1L were set to Neurodevelopmental disorder Review for gene: FSD1L was set to GREEN gene: FSD1L was marked as current diagnostic Added comment: ESHG 2023: 8 families with biallelic missense/nonsense variants Presentation only described 1 family/2 affecteds with DD, ID, spastic paraparesis, epilepsy, corpus callosum hypoplasia, and optic nerve hypoplasia Functional assays: -reduced expression of FSD1L in mature neurons (RNA studies) -very low % mature neurons (neuronal differentiation) -reduced neuronal migration Sources: Other |
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