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| Leukodystrophy - paediatric v0.2 | ACBD5 | Bryony Thompson Classified gene: ACBD5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.2 | ACBD5 | Bryony Thompson Gene: acbd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.1 | ACBD5 |
Bryony Thompson gene: ACBD5 was added gene: ACBD5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD5 were set to 23105016; 27799409 Phenotypes for gene: ACBD5 were set to Progressive leukodystrophy; syndromic cleft palate; ataxia; retinal dystrophy Review for gene: ACBD5 was set to GREEN Added comment: One family and one case with a phenotype that includes leukodystrophy as a prominent feature of the condition, and in vitro functional assays demonstrating ACBD5 deficiency shares similarities with other peroxisomal single enzyme deficiencies. Sources: Expert list |
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