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| Hereditary Neuropathy - complex v0.266 | GLA | Bryony Thompson Marked gene: GLA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.266 | GLA | Bryony Thompson Gene: gla has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.266 | GLA | Bryony Thompson Publications for gene: GLA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.205 | GLA |
Sangavi Sivagnanasundram changed review comment from: Systemic disease manifesting a range of phenotypes including small-fibre neuropathy. Neuropathy is not a specific feature of Fabry Disease however is shown to progress with age.; to: Systemic disease manifesting a range of phenotypes including small-fibre neuropathy. Neuropathy is not a specific feature of Fabry Disease however is shown to progress with age. Variants in GLA have been reported in individuals with neuropathy pain. |
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| Hereditary Neuropathy - complex v0.205 | GLA | Sangavi Sivagnanasundram reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: None; Publications: 19318041, 22497776; Phenotypes: Fabry Disease (MIM#301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.0 | GLA |
Bryony Thompson gene: GLA was added gene: GLA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: GLA were set to Cardiomyopathy; HSAN/SFN; Fabry disease |
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