Severe microcephaly

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

Ellen McDonagh (Genomics England Curator)

PMID: 28334956 - new publication providing further evidence.
14 Aug 2017, 3:12 p.m.

Publications

Rebecca Foulger (Genomics England curator)

Added 'new gene name' tag because 'PRUNE' is now called 'PRUNE1'.
5 Mar 2017, 1:56 p.m.

emma baple (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
microcephaly, spasticity, developmental delay

Publications

  • Brain 2017 awx014. doi: 10.1093/brain/awx014

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • microcephaly, spasticity, developmental delay
OMIM
617413
Clinvar variants
Variants in PRUNE1
Penetrance
Complete
Publications
  • Brain 2017 awx014. doi: 10.1093/brain/awx014
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

PRUNE was changed to PRUNE1

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from PRUNE. Panel: Primary Microcephaly - Microcephalic Dwarfism Spectrum

4 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Mar 2017, Gel status: 0

Created

emma baple (Genomics England Curator)

PRUNE was created by ebapleC

4 Mar 2017, Gel status: 0

Added New Source

emma baple (Genomics England Curator)

PRUNE was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature