Intracerebral calcification disorders
Gene: CYP2U1EnsemblGeneIds (GRCh38): ENSG00000155016
EnsemblGeneIds (GRCh37): ENSG00000155016
OMIM: 610670, Gene2Phenotype
CYP2U1 is in 15 panels
3 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Expert review; can present with calcification.Created: 19 Dec 2016, 4:52 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Expert review green. It is a green gene on the Intellectual disability gene panel (version 1.14), Hereditary ataxia gene panel (version 1.34) and Hereditary spastic paraplegia gene panel (version 1.1). Basal ganglia calcifications are a rare feature of Spastic paraplegia 56, autosomal recessive. In PMID: 23176821 three subjects with CYP2U1 mutations presented with a thin corpus callosum, white-matter abnormalities, and/or calcification of the basal ganglia.Created: 29 Nov 2016, 1:05 p.m.
Yanick Crow (University of Manchester)
Apparently rare but definite cause of intracranial calcification.Created: 11 Feb 2016, 7:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Spastic paraplegia 56, autosomal recessive
- OMIM
- 610670
- Clinvar variants
- Variants in CYP2U1
- Penetrance
- Complete
- 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
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and internal curation review.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)CYP2U1 was added to Intracerebral calcification disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)CYP2U1 was created by ellenmcdonagh