Hereditary neuropathy or pain disorder
Gene: CYP2U1EnsemblGeneIds (GRCh38): ENSG00000155016
EnsemblGeneIds (GRCh37): ENSG00000155016
OMIM: 610670, Gene2Phenotype
CYP2U1 is in 15 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
CYP2U1 variants have been associated with Spastic paraplegia 56, autosomal recessive (OMIM:615030) and as definitive G2P gene for the same condition. At least nine variants have been reported in at least seven cases of OMIM:615030 (PMID: 23176821;33107650). The OMIM:615030 phenotype has also been reproduced in a Cyp2u1 knockout mouse model (PMID: 34546337).Created: 4 Nov 2024, 12:53 p.m. | Last Modified: 4 Nov 2024, 12:53 p.m.
Panel Version: 6.42
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Alexander Rossor (UCL Institute of Neurology)
Sources: Expert listCreated: 19 Oct 2024, 10:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spastic paraplegia; cognitive impairment; subvlincial peripheral neuropathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Spastic paraplegia 56, autosomal recessive, OMIM:615030
- hereditary spastic paraplegia 56, MONDO:0014015
- OMIM
- 610670
- Clinvar variants
- Variants in CYP2U1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intracerebral calcification disorders
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Fetal anomalies
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary spastic paraplegia
- DDG2P
- Retinal disorders
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: CYP2U1. Tag Q3_24_NHS_review was removed from gene: CYP2U1.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to CYP2U1. Source Expert Review Green was added to CYP2U1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: CYP2U1. Tag Q3_24_NHS_review tag was added to gene: CYP2U1.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CYP2U1 were set to 23176821; 33107650
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CYP2U1 were changed from spastic paraplegia; cognitive impairment; subvlincial peripheral neuropathy to Spastic paraplegia 56, autosomal recessive, OMIM:615030; hereditary spastic paraplegia 56, MONDO:0014015
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CYP2U1 were set to 23176821
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: cyp2u1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: CYP2U1 was added gene: CYP2U1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP2U1 were set to 23176821 Phenotypes for gene: CYP2U1 were set to spastic paraplegia; cognitive impairment; subvlincial peripheral neuropathy Penetrance for gene: CYP2U1 were set to Complete Review for gene: CYP2U1 was set to GREEN