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  3. CYP2U1
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Leukodystrophy - paediatric

Gene: CYP2U1

Amber List (moderate evidence)
CYP2U1 (cytochrome P450 family 2 subfamily U member 1)
EnsemblGeneIds (GRCh38): ENSG00000155016
EnsemblGeneIds (GRCh37): ENSG00000155016
OMIM: 610670, Gene2Phenotype
CYP2U1 is in 11 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

White matter lesions have been reported in the condition, but are rare and not a prominent feature.
Sources: Expert list
Created: 18 Jan 2020, 3:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 56, autosomal recessive 615030

Publications

Created: 18 Jan 2020, 3:17 a.m.

Panel version: 0.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic paraplegia 56, autosomal recessive 615030
OMIM
610670
Clinvar variants
Variants in CYP2U1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cyp2u1 has been classified as Amber List (Moderate Evidence).

18 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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