1. Panels
  2. Hereditary Spastic Paraplegia - paediatric
  3. ENTPD1
STRs in panel
Prev Next
Regions in panel
Prev Next

Hereditary Spastic Paraplegia - paediatric

Gene: ENTPD1

Green List (high evidence)
ENTPD1 (ectonucleoside triphosphate diphosphohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000138185
EnsemblGeneIds (GRCh37): ENSG00000138185
OMIM: 601752, Gene2Phenotype
ENTPD1 is in 4 panels

2 reviews

Shekeeb Mohammad (Children's Hospital at Westmead)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spastic paraplegia; intellectual disability; white matter abnormalities on MRI

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 27 Apr 2022, 10:18 p.m.
Last Modified: 27 Apr 2022, 10:18 p.m.
Panel version: 1.25

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Three unrelated families with a complicated HSP phenotype.
Created: 19 Apr 2020, 9:38 a.m. | Last Modified: 19 Apr 2020, 9:38 a.m.
Panel Version: 0.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 64, autosomal recessive MIM#615683

Publications

Created: 19 Apr 2020, 9:38 a.m.
Last Modified: 19 Apr 2020, 9:38 a.m.
Panel version: 0.65

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 64, autosomal recessive MIM#615683
OMIM
601752
Clinvar variants
Variants in ENTPD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ENTPD1 were set to 24482476; 30652007

14 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ENTPD1 were set to

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ENTPD1 was added gene: ENTPD1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ENTPD1 were set to Spasticparaplegia 64, 615683