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Fetal anomalies

Gene: PRUNE1

Amber List (moderate evidence)

PRUNE1 (prune exopolyphosphatase 1)
EnsemblGeneIds (GRCh38): ENSG00000143363
EnsemblGeneIds (GRCh37): ENSG00000143363
OMIM: 617413, Gene2Phenotype
PRUNE1 is in 5 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 4:17 p.m. | Last Modified: 1 Feb 2021, 4:17 p.m.
Panel Version: 1.517

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Severe microcephaly
Created: 28 Jan 2021, 4:01 p.m. | Last Modified: 28 Jan 2021, 4:01 p.m.
Panel Version: 1.203

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for PEHO Like condition
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, OMIM:617481
  • Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MONDO:0060490
Tags
for-review
OMIM
617413
Clinvar variants
Variants in PRUNE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2021, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: PRUNE1 were set to

1 Feb 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PRUNE1 were changed from PEHO Like condition to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, OMIM:617481; Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MONDO:0060490

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: prune1 has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: PRUNE1.

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: PRUNE1 was added gene: PRUNE1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRUNE1 were set to PEHO Like condition