Activity
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| Ataxia and cerebellar anomalies - narrow panel v7.18 | NUS1 | Arina Puzriakova Tag Q3_24_promote_green was removed from gene: NUS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v7.18 | NUS1 | Arina Puzriakova reviewed gene: NUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v7.17 | NUS1 |
Arina Puzriakova Source NHS GMS was added to NUS1. Source Expert Review Green was added to NUS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v7.6 | NUS1 | Achchuthan Shanmugasundram Classified gene: NUS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v7.6 | NUS1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (~10 unrelated patients and functional evidence) for the association of this gene with ataxia. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v7.6 | NUS1 | Achchuthan Shanmugasundram Gene: nus1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v7.5 | NUS1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NUS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v7.5 | NUS1 |
Achchuthan Shanmugasundram gene: NUS1 was added gene: NUS1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NUS1 were set to 31656175; 32485575; 32959737; 33731878; 38291835 Phenotypes for gene: NUS1 were set to hereditary ataxia, MONDO:0100309 Review for gene: NUS1 was set to GREEN Added comment: PMID:31656175 reported two unrelated patients with a novel de novo NUS1 variant and they presented with epileptic seizures with involuntary movement, ataxia, intellectual disability and scoliosis. PMID:32485575 reported the identification of a novel heterozygous frameshift variant in NUS1 gene in five patients from a family with epilepsy. They all had cerebellar ataxia and tremor. PMID:32959737 reported a 34-year-old female with NUS1 variant with a prominent and progressive generalised dystonia. She developed a slight head tremor at 18 months of age. Intellectual disability was diagnosed by second grade. She developed a mild but progressive gait ataxia, dysarthria, and dyscoordination of the hands. PMID:33731878 reported three patients with de novo heterozygous NUS1 variants, of which two patients presented with ataxia. The third patient had no ataxia but was noted to have dysarthria. There is also functional evidence available from patient fibroblasts and zebrafish models. PMID:38291835 reported five unrelated patients with NUS1 variants. They had onset of movement disorders ranging from birth to 13 years of age and four of them had mild gait ataxia. Sources: Literature |
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