Adult onset neurodegenerative disorder
Gene: ENTPD1
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Young onset HSP phenotypeCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spasticparaplegia64, 615683
Publications for gene: ENTPD1 were set to Novarino et al. (2014)
Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia64,615683 to Spastic paraplegia 64, autosomal recessive, OMIM:615683
Source NHS GMS was added to ENTPD1.
Source Yorkshire and North East GLH was added to ENTPD1.
Rebecca Foulger: Gene awaiting curator evaluati
gene: ENTPD1 was added gene: ENTPD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ENTPD1 were set to Novarino et al. (2014) Phenotypes for gene: ENTPD1 were set to Spasticparaplegia64,615683