Childhood 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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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.

Created: 21 May 2019, 4:50 p.m.

Panel version: 1.166

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: 1.74

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Yorkshire and North East GLH
Expert list
Radboud University Medical Center, Nijmegen

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

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

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

21 May 2019, Gel status: 3