Hereditary spastic paraplegia
Gene: PNPLA6This 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, 9:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary spastic paraplegia; spastic ataxia and other MNDs
Publications
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene PNPLA6 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene PNPLA6 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene PNPLA6 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene PNPLA6 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene PNPLA6 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene PNPLA6 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene PNPLA6 was changed to BIALLELIC, autosomal or pseudoautosomal
PNPLA6 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list
Model of inheritance for gene PNPLA6 was changed to BIALLELIC, autosomal or pseudoautosomal
PNPLA6 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list
PNPLA6 was added to Hereditary spastic paraplegiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list