Hereditary spastic paraplegia
Gene: CYP7B1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
This gene is on the Hereditary Spastic Paraplagia (HSP) NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 14 Jun 2016, 9:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary spastic paraplegia
Publications
Publications for gene: CYP7B1 were set to Tsaousidou et al. (2008) i
Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive to Spastic paraplegia 5A, autosomal recessive , OMIM:270800
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal
CYP7B1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal
CYP7B1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene CYP7B1 was changed to BIALLELIC, autosomal or pseudoautosomal
CYP7B1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
CYP7B1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen