Hereditary spastic paraplegia

Gene: ENTPD1

Red List (low evidence)

ENTPD1 (ectonucleoside triphosphate diphosphohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000138185
EnsemblGeneIds (GRCh37): ENSG00000138185
OMIM: 601752, Gene2Phenotype
ENTPD1 is in 6 panels

1 review

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spasticparaplegia64,615683
OMIM
601752
Clinvar variants
Variants in ENTPD1
Penetrance
Complete
Publications
  • Novarino et al. (2014)
Panels with this gene

History Filter Activity

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

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ENTPD1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ENTPD1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ENTPD1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ENTPD1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ENTPD1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ENTPD1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ENTPD1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list