| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.150 | NARS1 | Bryony Thompson Marked gene: NARS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.150 | NARS1 | Bryony Thompson Gene: nars1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.150 | NARS1 | Bryony Thompson Classified gene: NARS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.150 | NARS1 | Bryony Thompson Gene: nars1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.149 | NARS1 |
Bryony Thompson gene: NARS1 was added gene: NARS1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: NARS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NARS1 were set to 38495304; 32738225 Phenotypes for gene: NARS1 were set to Neurodevelopmental disorder, MONDO:0700092; neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, MONDO:0100348; neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, MONDO:0030837 Review for gene: NARS1 was set to GREEN Added comment: Both dominant and recessive NARS1‑related neurodevelopmental disorders feature ataxia, aligning them with the Ataxia panel's scope. Manole2020 reports eight unrelated families with de novo heterozygous NARS1 variants causing a dominant neurodevelopmental disorder with microcephaly, seizures and gait ataxia (toxic gain‑of‑function). Beijer2024 describes a de novo in‑frame deletion in a single family causing a dominant neurodevelopmental disorder characterised by cerebellar ataxia, pyramidal signs, developmental delay, intellectual disability and peripheral neuropathy. Manole2020 also identifies thirteen unrelated families with biallelic NARS1 variants resulting in a recessive neurodevelopmental disorder with microcephaly, impaired language and gait ataxia (partial loss‑of‑function). Sources: Literature |
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