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Hereditary Neuropathy - complex

Gene: CYP7B1

Green List (high evidence)
CYP7B1 (cytochrome P450 family 7 subfamily B member 1)
EnsemblGeneIds (GRCh38): ENSG00000172817
EnsemblGeneIds (GRCh37): ENSG00000172817
OMIM: 603711, Gene2Phenotype
CYP7B1 is in 14 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). CYP7B1 deficiency can cause an inborn error of bile acid metabolism.
Sources: NHS GMS
Created: 3 Feb 2021, 1:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid synthesis defect, congenital, 3 MIM#613812; Spastic paraplegia 5A, autosomal recessive MIM#270800; Disorders of bile acid biosynthesis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 Feb 2021, 1:13 a.m.

Panel version: Imported from Miscellaneous Metabolic Disorders panel version 0.119

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Childhood to adult-onset spastic paraplegia and bladder dysfunction, periventricular white matter abnormalities on MRI, one patient described with SNCV
OMIM
603711
Clinvar variants
Variants in CYP7B1
Penetrance
None
Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CYP7B1 was added gene: CYP7B1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP7B1 were set to Childhood to adult-onset spastic paraplegia and bladder dysfunction, periventricular white matter abnormalities on MRI, one patient described with SNCV