Hereditary spastic paraplegia
Gene: CYP2U1EnsemblGeneIds (GRCh38): ENSG00000155016
EnsemblGeneIds (GRCh37): ENSG00000155016
OMIM: 610670, Gene2Phenotype
CYP2U1 is in 15 panels
1 review
emma baple (Genomics England Curator)
Comment when marking as ready: A number of unrelated families identifiedCreated: 9 Mar 2016, 8:29 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spastic paraplegia 56, autosomal recessive
- OMIM
- 610670
- Clinvar variants
- Variants in CYP2U1
- Penetrance
- Complete
- Publications
-
- Tesson et al. (2012)
- Panels with this gene
-
- Intracerebral calcification disorders
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset hereditary spastic paraplegia
- Hereditary ataxia with onset in adulthood
- White matter disorders and cerebral calcification - narrow panel
- Hereditary spastic paraplegia
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Intellectual disability
- Fetal anomalies
- DDG2P
History Filter Activity
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CYP2U1 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CYP2U1 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CYP2U1 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CYP2U1 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CYP2U1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CYP2U1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)CYP2U1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list