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| Leukodystrophy - paediatric v0.178 | AIFM1 | Zornitza Stark Marked gene: AIFM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.178 | AIFM1 | Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.178 | AIFM1 | Zornitza Stark Phenotypes for gene: AIFM1 were changed from hypomyelinating leukodystrophy and spondylometaphyseal dysplasia to Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.177 | AIFM1 | Zornitza Stark Publications for gene: AIFM1 were set to 28842795 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.176 | AIFM1 | Zornitza Stark reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28842795, 27102849; Phenotypes: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.0 | AIFM1 |
Bryony Thompson gene: AIFM1 was added gene: AIFM1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AIFM1 were set to 28842795 Phenotypes for gene: AIFM1 were set to hypomyelinating leukodystrophy and spondylometaphyseal dysplasia |
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