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Leukodystrophy - paediatric v0.191 | NAXE | Zornitza Stark Marked gene: NAXE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Leukodystrophy - paediatric v0.191 | NAXE | Zornitza Stark Gene: naxe has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Leukodystrophy - paediatric v0.191 | NAXE | Zornitza Stark Publications for gene: NAXE were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Leukodystrophy - paediatric v0.190 | NAXE | Zornitza Stark reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27122014, 27616477, 31758406; Phenotypes: Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Leukodystrophy - paediatric v0.0 | NAXE |
Bryony Thompson gene: NAXE was added gene: NAXE was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186 |