Hereditary spastic paraplegia - childhood onsetGene: ENTPD1
Red gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:50 p.m.
Childhood onset. Three families with 5 affected. No additional patients identified using Sheffield panel.
Created: 10 May 2019, 12:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Green was added to ENTPD1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia64,615683 to Spasticparaplegia 64, 615683
Publications for gene: ENTPD1 were set to Novarino et al. (2014)
Source NHS GMS was added to ENTPD1.
Source Yorkshire and North East GLH was added to ENTPD1.
Added phenotypes Spasticparaplegia64,615683 for gene: ENTPD1
Rebecca Foulger: Comment on list classification
gene: ENTPD1 was added gene: ENTPD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,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