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Adult onset hereditary spastic paraplegia
Gene: ENTPD1

ENTPD1 (ectonucleoside triphosphate diphosphohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000138185
EnsemblGeneIds (GRCh37): ENSG00000138185
OMIM: 601752, Gene2Phenotype
ENTPD1 is in 8 panels

6 reviews

Sarah Leigh (Genomics England Curator)

The 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

Created: 14 Mar 2022, 1:19 p.m.
Last Modified: 14 Mar 2022, 1:19 p.m.
Panel version: 1.95

Arina Puzriakova (Genomics England Curator)

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

Created: 16 Aug 2021, 3:55 p.m.
Last Modified: 16 Aug 2021, 3:55 p.m.
Panel version: 1.33

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Childhood onset.
Created: 20 Sep 2020, 8:17 a.m. | Last Modified: 20 Sep 2020, 8:17 a.m.

Panel Version: 1.7

Created: 20 Sep 2020, 8:17 a.m.
Last Modified: 20 Sep 2020, 8:17 a.m.
Panel version: 1.7

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

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

Created: 10 May 2019, 12:02 p.m.

Panel version: 0.53

Louise Daugherty (Genomics England Curator)

I don't know

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.

Created: 27 Apr 2019, 4:30 p.m.

Panel version: 0.148

Chris Buxton (North Bristol NHS Trust)

I don't know

see current PA review status
Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spasticparaplegia64,615683

Publications

Novarino et al. (2014)

Created: 27 Apr 2019, 4:17 p.m.

Panel version: 0.29

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
NHS GMS
Yorkshire and North East GLH
South West GLH

Phenotypes

Spastic paraplegia 64, autosomal recessive, OMIM:615683

OMIM

601752

Clinvar variants

Variants in ENTPD1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

14 Mar 2022, Gel status: 2

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_phenotype was removed from gene: ENTPD1.

14 Mar 2022, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to ENTPD1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

16 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia 64, 615683 to Spastic paraplegia 64, autosomal recessive, OMIM:615683

16 Aug 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ENTPD1 were set to Novarino et al. (2014); 24482476; 29691679

16 Aug 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_phenotype tag was added to gene: ENTPD1.

21 May 2019, Gel status: 3