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Paediatric motor neuronopathies v3.16 SLC52A3 Ida Ertmanska commented on gene: SLC52A3: A 'treatable' tag was added as high-dose riboflavin supplementation early on is effective in stopping disease progression and possibly lifesaving (https://www.ncbi.nlm.nih.gov/books/NBK299312/).
Paediatric motor neuronopathies v3.16 SLC52A3 Ida Ertmanska Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, OMIM:211530 to Brown-Vialetto-Van Laere syndrome 1, OMIM:211530; Brown-Vialetto-van Laere syndrome 1, MONDO:0024537; ?Fazio-Londe disease, OMIM:211500; riboflavin transporter deficiency, MONDO:0008891
Paediatric motor neuronopathies v3.15 SLC52A3 Ida Ertmanska Publications for gene: SLC52A3 were set to 20206331; 20920669
Paediatric motor neuronopathies v3.14 SLC52A3 Ida Ertmanska Tag Q2_26_MOI tag was added to gene: SLC52A3.
Paediatric motor neuronopathies v3.14 SLC52A3 Ida Ertmanska Tag treatable tag was added to gene: SLC52A3.
Paediatric motor neuronopathies v3.14 SLC52A3 Ida Ertmanska commented on gene: SLC52A3: Comment on mode of inheritance: There are more than 3 unrelated patients with both monoallelic and biallelic variants in SLC52A3 and Brown-Vialetto-Van Laere syndrome. Both modes of inheritance result in the same phenotype of hearing loss and ponto-bulbar palsy / bilateral vestibular neuropathy. Hence, the mode of inheritance for Paediatric motor neuronopathies should be updated from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Paediatric motor neuronopathies v3.14 SLC52A3 Ida Ertmanska reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22718020, 29053833, 34384672, 38469093, 40539137; Phenotypes: Brown-Vialetto-Van Laere syndrome 1, OMIM:211530, Brown-Vialetto-van Laere syndrome 1, MONDO:0024537, ?Fazio-Londe disease, OMIM:211500, riboflavin transporter deficiency, MONDO:0008891; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric motor neuronopathies v1.45 SLC52A3 Ivone Leong Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, 211530 to Brown-Vialetto-Van Laere syndrome 1, OMIM:211530
Paediatric motor neuronopathies SLC52A3 Pinki Munot reviewed SLC52A3
Paediatric motor neuronopathies SLC52A3 Dragana Josifova reviewed SLC52A3
Paediatric motor neuronopathies SLC52A3 Alice Gardham marked SLC52A3 as ready
Paediatric motor neuronopathies SLC52A3 Alice Gardham classified SLC52A3 as green
Paediatric motor neuronopathies SLC52A3 Alice Gardham reviewed SLC52A3