Ataxia - paediatric
Gene: CYP2U1
CYP2U1 (cytochrome P450 family 2 subfamily U member 1)
EnsemblGeneIds (GRCh38): ENSG00000155016
EnsemblGeneIds (GRCh37): ENSG00000155016
OMIM: 610670, Gene2Phenotype
CYP2U1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000155016
EnsemblGeneIds (GRCh37): ENSG00000155016
OMIM: 610670, Gene2Phenotype
CYP2U1 is in 11 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Ataxia is not a prominent feature of the phenotype
Sources: Expert listCreated: 16 Jan 2020, 5:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 56, autosomal recessive, 615030
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Ataxia is not a major part of the phenotype.Created: 28 Dec 2019, 12:07 a.m. | Last Modified: 28 Dec 2019, 12:07 a.m.
Panel Version: 0.30
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 56, autosomal recessive, MIM#615030
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Spastic paraplegia 56, autosomal recessive, 615030
- OMIM
- 610670
- Clinvar variants
- Variants in CYP2U1
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - paediatric
- Fetal anomalies
- Prepair 1000+
- Hereditary Neuropathy - complex
- Mendeliome
- Brain Calcification
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
- Ataxia - paediatric
- Cerebral Palsy
History Filter Activity
17 Apr 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cyp2u1 has been classified as Red List (Low Evidence).
16 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CYP2U1 was added gene: CYP2U1 was added to Ataxia - paediatric_RMH. Sources: Expert list 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, 615030