Cerebral Palsy
Gene: CYP2U1EnsemblGeneIds (GRCh38): ENSG00000155016
EnsemblGeneIds (GRCh37): ENSG00000155016
OMIM: 610670, Gene2Phenotype
CYP2U1 is in 11 panels
2 reviews
Clare van Eyk (University of Adelaide)
1 individual reported with homozygous frameshift variant in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.Created: 28 May 2024, 5:56 a.m. | Last Modified: 28 May 2024, 5:56 a.m.
Panel Version: 1.194
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 56, autosomal recessive, MIM#615030
Publications
- PMID: 38693247
Danielle Ariti (University of Melbourne)
Single case reported in CP cohort (bi-allelic p.D316V variant).
SPG56 is an autosomal recessive neurodegenerative disorder characterised by early-onset progressive lower-limb spasticity. 4 reported SPG56 cases display CP-like phenotype: ID and spastic diplegia.
Sources: Expert listCreated: 21 Sep 2021, 12:48 a.m. | Last Modified: 21 Sep 2021, 12:51 a.m.
Panel Version: 0.111
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral Palsy; Spastic paraplegia 56, autosomal recessive MIM# 615030
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cerebral Palsy
- Spastic paraplegia 56, autosomal recessive MIM# 615030
- OMIM
- 610670
- Clinvar variants
- Variants in CYP2U1
- Penetrance
- None
- Publications
- 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CYP2U1 were set to 33528536; 29761117; 23176821
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cyp2u1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cyp2u1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Danielle Ariti (University of Melbourne)gene: CYP2U1 was added gene: CYP2U1 was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP2U1 were set to 33528536; 29761117; 23176821 Phenotypes for gene: CYP2U1 were set to Cerebral Palsy; Spastic paraplegia 56, autosomal recessive MIM# 615030 Review for gene: CYP2U1 was set to GREEN