Hereditary spastic paraplegia
Gene: ENTPD1
Travaglini (2018, 29691679)
Homozygous nonsense, 1 family. 27 yo male, cognitive delay and toe walking during the second year of life.
successively, spastic paraplegia with dystonic posturing of the upper limbs and face. No parental testing.
Novarino (2014 24482476)
two families with HSP related phenotypes, and variants in this gene: missense and nonsense (zygosity info not clearly evident in paper)Created: 27 Nov 2018, 10:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cognitive delay; spastic paraplegia; dystonia
Publications
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene ENTPD1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene ENTPD1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene ENTPD1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene ENTPD1 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene ENTPD1 was changed to BIALLELIC, autosomal or pseudoautosomal
ENTPD1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list
ENTPD1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list