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| Leukodystrophy - adult onset v0.109 | GLA | Claire Fryer-Smith reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30757954, 12786754, 15924232, 31200018, 31519519; Phenotypes: Fabry disease (MIM# 301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.0 | GLA |
Bryony Thompson gene: GLA was added gene: GLA was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GLA were set to Fabry disease, Fabry disease, cardiac variant, 301500 |
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