Hereditary spastic paraplegia
Gene: VPS37AGene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019Created: 3 May 2019, 9:15 a.m.
Comment when marking as ready: single founder Arab mutation further evidence required.
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.
Zivony-Elboum Y1, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC.Created: 10 May 2016, 2:17 p.m.
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene VPS37A was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene VPS37A was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene VPS37A was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene VPS37A was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene VPS37A was changed to BIALLELIC, autosomal or pseudoautosomal
VPS37A was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list
VPS37A was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list