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| Leukodystrophy - paediatric v0.47 | TMEM63A | Bryony Thompson Classified gene: TMEM63A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.47 | TMEM63A | Bryony Thompson Gene: tmem63a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.46 | TMEM63A |
Bryony Thompson gene: TMEM63A was added gene: TMEM63A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM63A were set to 31587869 Phenotypes for gene: TMEM63A were set to Leukodystrophy, hypomyelinating, 19, transient infantile 618688 Review for gene: TMEM63A was set to GREEN Added comment: 4 unrelated patients with infantile-onset leukodystrophy with heterozygous variants. Sources: Expert list |
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