16 Aug 2021
Hereditary spastic paraplegia v1.238
ENTPD1
Arina Puzriakova Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia64,615683 to Spastic paraplegia 64, autosomal recessive, OMIM:615683
16 Aug 2021
Hereditary spastic paraplegia v1.237
ENTPD1
Arina Puzriakova Publications for gene: ENTPD1 were set to Novarino et al. (2014)
16 Aug 2021
Hereditary spastic paraplegia v1.236
ENTPD1
Arina Puzriakova Classified gene: ENTPD1 as Green List (high evidence)
16 Aug 2021
Hereditary spastic paraplegia v1.236
ENTPD1
Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Green as there are sufficient unrelated cases (>3) to support this gene-disease association. ENTPD1 is also already Green on the GMS-equivalent HSP panels.
16 Aug 2021
Hereditary spastic paraplegia v1.236
ENTPD1
Arina Puzriakova Gene: entpd1 has been classified as Green List (High Evidence).
16 Aug 2021
Hereditary spastic paraplegia v1.235
ENTPD1
Arina Puzriakova reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30652007; Phenotypes: Spastic paraplegia 64, autosomal recessive, OMIM:615683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Nov 2018
Hereditary spastic paraplegia v1.71
ENTPD1
Chris Buxton reviewed gene: ENTPD1: Rating: RED; Mode of pathogenicity: None; Publications: 29691679, 24482476; Phenotypes: cognitive delay, spastic paraplegia, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal