Severe microcephaly
Gene: PRUNE1EnsemblGeneIds (GRCh38): ENSG00000143363
EnsemblGeneIds (GRCh37): ENSG00000143363
OMIM: 617413, Gene2Phenotype
PRUNE1 is in 4 panels
5 reviews
Eleanor Williams (Genomics England Curator)
Further clinical analysis of previously reported patients and functional analysis of some of the variants in PMID:33105479 - Nistala et al 2020 - detailed phenotypic analysis of a previously reported family (SZ51, Karaca et al 2015) plus detailed literature and clinical review of all 35 NMIHBA patients reported to date. They also characterized 4 variants (p.D30N, p.D106N, p.R128Q and p.G174*) within the conserved N-terminal domain. Wild type or mutant proteins were transfected into HEK293 cells. Cells showed either no protein expression (p.G174*) or loss of PRUNE1 function due to impaired protein stability or loss of enzymatic function (3 missense variants). Prune1−/− mice show midgestational lethality, associated with changes in embryonic growth and vascular development.Created: 3 Feb 2021, 12:04 p.m. | Last Modified: 3 Feb 2021, 12:04 p.m.
Panel Version: 2.98
Publications
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Ellen McDonagh (Genomics England Curator)
PMID: 28334956 - new publication providing further evidence.Created: 14 Aug 2017, 3:12 p.m.
Publications
Rebecca Foulger (Genomics England curator)
Added 'new gene name' tag because 'PRUNE' is now called 'PRUNE1'.Created: 5 Mar 2017, 1:56 p.m.
emma baple (Genomics England Curator)
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
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- microcephaly, spasticity, developmental delay
- Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM:617481
- neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0060490
- OMIM
- 617413
- Clinvar variants
- Variants in PRUNE1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: PRUNE1 were set to Brain 2017 awx014. doi: 10.1093/brain/awx014
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: PRUNE1 were changed from microcephaly, spasticity, developmental delay to microcephaly, spasticity, developmental delay; Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM:617481; neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0060490
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PRUNE1.
Changed Gene Name
GEL ()PRUNE was changed to PRUNE1
Removed Tag
GEL ()new-gene-name was removed from PRUNE. Panel: Primary Microcephaly - Microcephalic Dwarfism Spectrum
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
emma baple (Genomics England Curator)PRUNE was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature
Created
emma baple (Genomics England Curator)PRUNE was created by ebapleC