Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |