Brain Calcification
Gene: CYP2U1EnsemblGeneIds (GRCh38): ENSG00000155016
EnsemblGeneIds (GRCh37): ENSG00000155016
OMIM: 610670, Gene2Phenotype
CYP2U1 is in 11 panels
2 reviews
Yetong Chen (University of Melbourne)
Additional cases are found.
PMID 30111349 reports a patient with a CYP2U1 variant who developed bilateral pallidal marked hypointensity and hyperdensity due to brain calcification.
PMID 33107650 reports 3 pseudoxanthoma elastic (PXE) patients who developed brain calcification. 2 of them had compound heterozygous CYP2U1 variants, 1 of them had a homozygous CYP2U1 variant and an ABCC6 variant.Created: 30 Mar 2023, 3:34 a.m. | Last Modified: 30 Mar 2023, 3:34 a.m.
Panel Version: 1.38
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 56, autosomal recessive, MIM# 615030
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Established gene-disease association, basal ganglia calcification is a feature.
Sources: Expert listCreated: 24 Jul 2020, 8:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 56, autosomal recessive, MIM# 615030
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- 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 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CYP2U1 was added gene: CYP2U1 was added to Brain Calcification. 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 56, autosomal recessive, MIM# 615030 Review for gene: CYP2U1 was set to GREEN