Ataxia and cerebellar anomalies - narrow panel
Gene: CYP2U1EnsemblGeneIds (GRCh38): ENSG00000155016
EnsemblGeneIds (GRCh37): ENSG00000155016
OMIM: 610670, Gene2Phenotype
CYP2U1 is in 15 panels
3 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)Created: 5 Oct 2022, 11:19 p.m. | Last Modified: 5 Oct 2022, 11:19 p.m.
Panel Version: 2.306
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Autosomal recessive spastic paraplegia 56 (#615030) is a complex form of disorder, ataxia not yet identified in affected patients (Table 1 in PMID: 27292318 provides a review of cases reported so far).Created: 14 Apr 2021, 10:54 a.m. | Last Modified: 27 Apr 2021, 10:11 a.m.
Panel Version: 2.134
Zornitza Stark (Australian Genomics)
Ataxia is not a prominent feature of this condition as far as I can ascertain.Created: 12 Sep 2020, 3:07 a.m. | Last Modified: 12 Sep 2020, 3:07 a.m.
Panel Version: 2.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 56, autosomal recessive, MIM#615030
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Spastic paraplegia 56, autosomal recessive OMIM:615030
- hereditary spastic paraplegia 56 MONDO:0014015
- OMIM
- 610670
- Clinvar variants
- Variants in CYP2U1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Retinal disorders
- DDG2P
- Intracerebral calcification disorders
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Removed Tag, Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q3_22_rating was removed from gene: CYP2U1. Tag Q3_22_expert_review was removed from gene: CYP2U1.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Red was added to CYP2U1. Source NHS GMS was added to CYP2U1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Removed Tag, Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_expert_review was removed from gene: CYP2U1. Tag Q3_22_rating tag was added to gene: CYP2U1. Tag Q3_22_expert_review tag was added to gene: CYP2U1.
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_expert_review tag was added to gene: CYP2U1.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CYP2U1 were changed from Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients. 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
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.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CYP2U1 was added gene: CYP2U1 was added to Ataxia and cerebellar anomalies - 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 Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients.