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Intellectual disability

Gene: ENTPD1

Amber List (moderate evidence)

ENTPD1 (ectonucleoside triphosphate diphosphohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000138185
EnsemblGeneIds (GRCh37): ENSG00000138185
OMIM: 601752, Gene2Phenotype
ENTPD1 is in 7 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Upgraded from Red to Amber as there is some evidence of cognitive impairment associated with SPG64, but perhaps too mild in most cases to warrant inclusion on this panel. Cases are expected to be picked up via the HSP route which presents a more prominent feature of this disorder.
Created: 16 Aug 2021, 4:13 p.m. | Last Modified: 16 Aug 2021, 4:13 p.m.
Panel Version: 3.1226
Seven individuals from four unrelated families have been reported with SPG64 and biallelic variants in this gene. All affected patients presented some degree of cognitive impairment:

- PMID: 24482476 (2014): 2 sibs in one family (1242-IV) had borderline intelligence, while another 2 sibs in an unrelated family (WMD-1800-6) had moderate ID

- PMID: 29691679 (2018): 1 male who showed cognitive delay during the second year of life

- PMID: 30652007 (2019): 2 sisters both said to have moderate learning disability
Created: 16 Aug 2021, 4:08 p.m. | Last Modified: 16 Aug 2021, 4:08 p.m.
Panel Version: 3.1223

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 64, autosomal recessive, OMIM:615683

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Possible DD gene for AUTOSOMAL RECESSIVE MENTAL RETARDATION in Gene2Phenotype. Reported in Spastic paraplegia 64, autosomal recessive in OMIM. Only evidence identified in the literature is in PMID 21937992 is from another reference that knockout mice display abnormal synaptic transmitter release.
Created: 27 Oct 2017, 2:46 p.m.

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
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: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: entpd1 has been classified as Amber List (Moderate Evidence).

16 Aug 2021, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ENTPD1 were set to 21937992

16 Aug 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ENTPD1 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Spastic paraplegia 64, autosomal recessive, OMIM:615683

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ENTPD1 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ENTPD1 was created by ellenmcdonagh