Hereditary spastic paraplegia
Gene: FA2H
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.
multiple cases of different ethnicities now describedCreated: 7 Feb 2016, 7:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary spastic paraplegia; NIBA
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 FA2H was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene FA2H was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene FA2H was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene FA2H was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene FA2H was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene FA2H was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene FA2H was changed to BIALLELIC, autosomal or pseudoautosomal
FA2H was added to Hereditary spastic paraplegiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list
Model of inheritance for gene FA2H was changed to BIALLELIC, autosomal or pseudoautosomal
FA2H was added to Hereditary spastic paraplegiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list
FA2H was added to Hereditary spastic paraplegiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list