Activity
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7 actions
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| Hereditary neuropathy or pain disorder v8.3 | 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/). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v8.3 | SLC52A3 | Ida Ertmanska Phenotypes for gene: SLC52A3 were changed from Fazio-Londe disease; dHMN; Brown-Vialetto-Van Laere syndrome 1 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v8.2 | SLC52A3 | Ida Ertmanska Publications for gene: SLC52A3 were set to 20206331 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v8.1 | SLC52A3 |
Ida Ertmanska Tag treatable tag was added to gene: SLC52A3. Tag Q2_26_MOI tag was added to gene: SLC52A3. |
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| Hereditary neuropathy or pain disorder v8.1 | 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 Hereditary neuropathy or pain disorder should be updated from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v8.1 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.1 | SLC52A3 |
Ellen McDonagh gene: SLC52A3 was added gene: SLC52A3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A3 were set to 20206331 Phenotypes for gene: SLC52A3 were set to Fazio-Londe disease; dHMN; Brown-Vialetto-Van Laere syndrome 1 |
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