Severe microcephaly
Gene: PRUNE1Further 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
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
PMID: 28334956 - new publication providing further evidence.Created: 14 Aug 2017, 3:12 p.m.
Publications
Added 'new gene name' tag because 'PRUNE' is now called 'PRUNE1'.Created: 5 Mar 2017, 1:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
microcephaly, spasticity, developmental delay
Publications
Publications for gene: PRUNE1 were set to Brain 2017 awx014. doi: 10.1093/brain/awx014
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
Source NHS GMS was added to PRUNE1.
PRUNE was changed to PRUNE1
new-gene-name was removed from PRUNE. Panel: Primary Microcephaly - Microcephalic Dwarfism Spectrum
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
PRUNE was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature
PRUNE was created by ebapleC