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Intellectual disability

Gene: PRUNE1

Green List (high evidence)

PRUNE1 (prune exopolyphosphatase 1)
EnsemblGeneIds (GRCh38): ENSG00000143363
EnsemblGeneIds (GRCh37): ENSG00000143363
OMIM: 617413, Gene2Phenotype
PRUNE1 is in 4 panels

3 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 13 Nov 2017, 1:46 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_manual . Main mutation mechanism : Loss of function/missense
Created: 27 Jul 2017, 8:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Manual assessment of Genes of interest from literature searches and personal communication

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Promoted gene status from Amber to Green due to expert review and evidence more than three unrelated individuals. PRUNE1 previous symbol is PRUNE
Created: 29 Nov 2017, 2:10 p.m.
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 3:49 p.m.
added new-gene-name tag, new approved HGNC gene symbol is PRUNE1
Created: 28 Jul 2017, 3:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481; NMIHBA; Complex neurological syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481
  • NMIHBA
  • Complex neurological syndrome
OMIM
617413
Clinvar variants
Variants in PRUNE1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

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.

29 Nov 2017, Gel status: 4

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to PRUNE1. Panel: Intellectual disability Publications for gene PRUNE1 was set to ['26539891', '28334956']

5 Nov 2017, Gel status: 2

Changed Gene Name

GEL ()

PRUNE was changed to PRUNE1

5 Nov 2017, Gel status: 2

Removed Tag

GEL ()

new-gene-name was removed from PRUNE. Panel: Intellectual disability

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Jul 2017, Gel status: 0

Changed Gene Name

Louise Daugherty (Genomics England Curator)

PRUNE1* was changed to PRUNE

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

PRUNE1* was created by BRIDGE

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

PRUNE1* was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene