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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
Hereditary spastic paraplegia v1.237 ENTPD1 Arina Puzriakova Publications for gene: ENTPD1 were set to Novarino et al. (2014)
Hereditary spastic paraplegia v1.236 ENTPD1 Arina Puzriakova Classified gene: ENTPD1 as Green List (high evidence)
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.
Hereditary spastic paraplegia v1.236 ENTPD1 Arina Puzriakova Gene: entpd1 has been classified as Green List (High Evidence).
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
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