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Fetal anomalies

Gene: CYP2U1

Red List (low evidence)

CYP2U1 (cytochrome P450 family 2 subfamily U member 1)
EnsemblGeneIds (GRCh38): ENSG00000155016
EnsemblGeneIds (GRCh37): ENSG00000155016
OMIM: 610670, Gene2Phenotype
CYP2U1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Neurodegenerative condition with onset in the first decade.
Created: 30 Nov 2019, 1:58 a.m. | Last Modified: 28 Nov 2021, 6:40 a.m.
Panel Version: 0.754

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
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Spastic paraplegia 56, autosomal recessive, MIM#615030
OMIM
610670
Clinvar variants
Variants in CYP2U1
Penetrance
None
Panels with this gene

History Filter Activity

28 Nov 2021, 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).

28 Nov 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CYP2U1 were changed from HEREDITARY SPASTIC PARAPLEGIA to Spastic paraplegia 56, autosomal recessive, MIM#615030

28 Nov 2021, 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).

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP2U1 was added gene: CYP2U1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP2U1 were set to HEREDITARY SPASTIC PARAPLEGIA