Hereditary spastic paraplegiaGene: GAD1
Homozygous missense sefgregating with disease in two families. No common haplotype (hence not founder effect).
No functional studies; Lynex (2007)
Created: 27 Nov 2018, 10:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Cerebral palsy; spastic; symmetric
This gene has been classified as Red List (Low Evidence).
GAD1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen