Adult onset hereditary spastic paraplegia
Gene: ENTPD1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.
Panel Version: 1.95
Review of literature revealed 4 unrelated families with SPG64 - all of which presented during childhood.
The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.Created: 16 Aug 2021, 3:55 p.m. | Last Modified: 16 Aug 2021, 3:55 p.m.
Panel Version: 1.33
Phenotypes
Spastic paraplegia 64, autosomal recessive, OMIM:615683
Publications
Childhood onset.Created: 20 Sep 2020, 8:17 a.m. | Last Modified: 20 Sep 2020, 8:17 a.m.
Panel Version: 1.7
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
Publications
Variants in this GENE are reported as part of current diagnostic practice
Amber 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, 4:14 p.m.
Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 27 Apr 2019, 4:30 p.m.
see current PA review statusCreated: 27 Apr 2019, 4:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spasticparaplegia64,615683
Publications
Tag Q3_21_phenotype was removed from gene: ENTPD1.
Source Expert Review Amber was added to ENTPD1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia 64, 615683 to Spastic paraplegia 64, autosomal recessive, OMIM:615683
Publications for gene: ENTPD1 were set to Novarino et al. (2014); 24482476; 29691679
Tag Q3_21_phenotype tag was added to gene: ENTPD1.
Source Expert Review Green was added to ENTPD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia 64,615683 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.
Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia64,615683 to Spasticparaplegia 64,615683
Mode of inheritance for gene: ENTPD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: entpd1 has been classified as Amber List (Moderate Evidence).
Added phenotypes Spasticparaplegia64,615683 for gene: ENTPD1 Publications for gene ENTPD1 were changed from to Novarino et al. (2014)
gene: ENTPD1 was added gene: ENTPD1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: ENTPD1 was set to