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Leukodystrophy - paediatric v0.12 CYP2U1 Bryony Thompson Classified gene: CYP2U1 as Amber List (moderate evidence)
Leukodystrophy - paediatric v0.12 CYP2U1 Bryony Thompson Gene: cyp2u1 has been classified as Amber List (Moderate Evidence).
Leukodystrophy - paediatric v0.11 CYP2U1 Bryony Thompson gene: CYP2U1 was added
gene: CYP2U1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2U1 were set to 27292318
Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive 615030
Review for gene: CYP2U1 was set to AMBER
Added comment: White matter lesions have been reported in the condition, but are rare and not a prominent feature.
Sources: Expert list