White matter disorders and cerebral calcification - childhood onset
Gene: CYP2U1
CYP2U1 (cytochrome P450 family 2 subfamily U member 1)
EnsemblGeneIds (GRCh38): ENSG00000155016
EnsemblGeneIds (GRCh37): ENSG00000155016
OMIM: 610670, Gene2Phenotype
CYP2U1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000155016
EnsemblGeneIds (GRCh37): ENSG00000155016
OMIM: 610670, Gene2Phenotype
CYP2U1 is in 15 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spastic paraplegia 56, autosomal recessive
- OMIM
- 610670
- Clinvar variants
- Variants in CYP2U1
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- DDG2P
- Intellectual disability
- Retinal disorders
- Fetal anomalies
- Hereditary spastic paraplegia, childhood onset
- White matter disorders and cerebral calcification - childhood onset
- Neurodegenerative disorders, adult onset
- Hereditary ataxia, adult onset
- Intracerebral calcification disorders
- Hereditary spastic paraplegia, adult onset
- Hereditary ataxia
- Ataxia and cerebellar anomalies - childhood onset
- Hereditary spastic paraplegia
- Dystonia, chorea or related movement disorder, childhood onset
History Filter Activity
8 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CYP2U1 was added gene: CYP2U1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive