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  3. ENTPD1
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Adult onset neurodegenerative disorder

Gene: ENTPD1

Red List (low evidence)
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

Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Created: 23 Jul 2019, 3:51 p.m.
Last Modified: 23 Jul 2019, 3:51 p.m.
Panel version: 1.74

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Young onset HSP phenotype
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spasticparaplegia64, 615683

Created: 23 Jul 2019, 3:35 p.m.
Last Modified: 23 Jul 2019, 3:35 p.m.
Panel version: 1.72

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Red
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: 1

Set publications

Arina Puzriakova (Genomics England Curator)

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

16 Aug 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ENTPD1 were changed from Spasticparaplegia64,615683 to Spastic paraplegia 64, autosomal recessive, OMIM:615683

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ENTPD1.

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ENTPD1.

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ENTPD1 was added gene: ENTPD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ENTPD1 were set to Novarino et al. (2014) Phenotypes for gene: ENTPD1 were set to Spasticparaplegia64,615683