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Hereditary Neuropathy - complex

Gene: CYP2U1

Green List (high 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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Polyneuropathy is a feature of the condition

PMID: 23176821
Multiple individuals from 5 unrelated families with HSP phenotypes.
Presence of homozygous and compound het variants (in trans) in the families that segregated
Created: 23 May 2023, 7:01 a.m. | Last Modified: 23 May 2023, 7:01 a.m.
Panel Version: 0.149

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 56, autosomal recessive, MIM#615030

Publications

Created: 23 May 2023, 7:01 a.m.
Last Modified: 23 May 2023, 7:01 a.m.
Panel version: 0.149

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 56, autosomal recessive, MIM#615030
OMIM
610670
Clinvar variants
Variants in CYP2U1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyp2u1 has been classified as Green List (High Evidence).

30 May 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CYP2U1 were changed from Onset first decade, spastic paraplegia, rarely dystonia and cognitive impairment, subclinical sensory-motor axonal neuropathy to Spastic paraplegia 56, autosomal recessive, MIM#615030

30 May 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CYP2U1 were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CYP2U1 was added gene: CYP2U1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP2U1 were set to Onset first decade, spastic paraplegia, rarely dystonia and cognitive impairment, subclinical sensory-motor axonal neuropathy