Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Leukodystrophy - paediatric v0.8 | BCAP31 | Bryony Thompson Classified gene: BCAP31 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Leukodystrophy - paediatric v0.8 | BCAP31 | Bryony Thompson Gene: bcap31 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Leukodystrophy - paediatric v0.7 | BCAP31 |
Bryony Thompson gene: BCAP31 was added gene: BCAP31 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: BCAP31 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, 300475 Review for gene: BCAP31 was set to GREEN Added comment: White matter changes are a feature of the condition. Sources: Expert list |