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Leukodystrophy - paediatric v0.19 | FIG4 | Bryony Thompson Classified gene: FIG4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Leukodystrophy - paediatric v0.19 | FIG4 | Bryony Thompson Gene: fig4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Leukodystrophy - paediatric v0.18 | FIG4 |
Bryony Thompson gene: FIG4 was added gene: FIG4 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIG4 were set to 30740813; 29688489 Phenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease, type 4J 611228; Yunis-Varon syndrome 216340; leukoencephalopathy Review for gene: FIG4 was set to GREEN Added comment: Two unrelated families with leukoencephalopathy as a feature of their conditions, and a mouse model recapitulating the phenotype. Sources: Expert list |