Hereditary spastic paraplegia
Gene: ENTPD1

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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.
Created: 16 Aug 2021, 4:19 p.m. | Last Modified: 16 Aug 2021, 4:19 p.m.

Panel Version: 1.236

Fourth family now reported by Mamelona et al. 2019 (PMID: 30652007) with two sisters with suspected HSP harbouring a homozygous ENTPD1 variant that segregated with the phenotype.
Created: 16 Aug 2021, 4:17 p.m. | Last Modified: 16 Aug 2021, 4:17 p.m.

Panel Version: 1.235

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 64, autosomal recessive, OMIM:615683

Publications

30652007

Created: 16 Aug 2021, 4:17 p.m.
Last Modified: 16 Aug 2021, 4:17 p.m.
Panel version: 1.235

Chris Buxton (North Bristol NHS Trust)

Red List (low evidence)

Travaglini (2018, 29691679)
Homozygous nonsense, 1 family. 27 yo male, cognitive delay and toe walking during the second year of life.
successively, spastic paraplegia with dystonic posturing of the upper limbs and face. No parental testing.

Novarino (2014 24482476)
two families with HSP related phenotypes, and variants in this gene: missense and nonsense (zygosity info not clearly evident in paper)
Created: 27 Nov 2018, 10:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cognitive delay; spastic paraplegia; dystonia

Publications

Created: 27 Nov 2018, 10:08 a.m.

Panel version: 1.71

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Radboud University Medical Center, Nijmegen

Phenotypes

Spastic paraplegia 64, autosomal recessive, OMIM:615683

OMIM

601752

Clinvar variants

Variants in ENTPD1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

16 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia64,615683 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)

16 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: entpd1 has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 1