Activity
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| Hereditary ataxia with onset in adulthood v8.26 | NEU1 |
Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: NEU1. Tag Q2_25_ NHS_review was removed from gene: NEU1. |
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| Hereditary ataxia with onset in adulthood v8.25 | NEU1 | Achchuthan Shanmugasundram reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v8.24 | NEU1 |
Arina Puzriakova Source Expert Review Green was added to NEU1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary ataxia with onset in adulthood v8.3 | NEU1 | Arina Puzriakova Classified gene: NEU1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v8.3 | NEU1 |
Arina Puzriakova Added comment: Comment on list classification: Biallelic variants in the NEU1 gene are associated with Sialidosis (OMIM: 256550). Both Sialidosis Type I (milder, late-onset) and Sialidosis Type II (more severe, early-onset) can present with ataxia as part of a systemic neurological condition. Overall there are sufficient unrelated cases to warrant inclusion on this panel. |
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| Hereditary ataxia with onset in adulthood v8.3 | NEU1 | Arina Puzriakova Gene: neu1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v8.2 | NEU1 |
Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: NEU1. Tag Q2_25_ NHS_review tag was added to gene: NEU1. |
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| Hereditary ataxia with onset in adulthood v8.2 | NEU1 | Arina Puzriakova Phenotypes for gene: NEU1 were changed from Ataxia; myoclonus to Sialidosis, type I, OMIM:256550; Sialidosis, type II, OMIM:256550; Ataxia; Myoclonus | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v7.15 | NEU1 |
Lauren Turton gene: NEU1 was added gene: NEU1 was added to Hereditary ataxia with onset in adulthood. Sources: NHS GMS Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEU1 were set to 10944856; 11063730; 32752208; 31371146; 30023283 Phenotypes for gene: NEU1 were set to Ataxia; myoclonus Review for gene: NEU1 was set to GREEN gene: NEU1 was marked as current diagnostic Added comment: NEU1-related sialidosis type I is a milder form of the disorder, characterised by visual defects, macular cherry-red spot, myoclonus, ataxia, and seizures. Onset can be variable from childhood to adulthood. Disorder has been well characterised for many years, with several unrelated patients reported. Sources: NHS GMS |
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