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| Leukodystrophy - adult onset v0.37 | RPS6KA3 | Zornitza Stark Marked gene: RPS6KA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.37 | RPS6KA3 | Zornitza Stark Gene: rps6ka3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.37 | RPS6KA3 | Zornitza Stark Publications for gene: RPS6KA3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.21 | RPS6KA3 | Bryony Thompson edited their review of gene: RPS6KA3: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.21 | RPS6KA3 | Bryony Thompson reviewed gene: RPS6KA3: Rating: ; Mode of pathogenicity: None; Publications: 16691578; Phenotypes: Coffin-Lowry syndrome MIM#303600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.0 | RPS6KA3 |
Bryony Thompson gene: RPS6KA3 was added gene: RPS6KA3 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: RPS6KA3 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: RPS6KA3 were set to Coffin-Lowry syndrome, 303600 |
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