Mitochondrial disorders
Gene: PITRM1
Three families with two unique variants. Mitochondrial dysfunction identified in in vitro functional assays and mouse model.Created: 23 Mar 2020, 12:23 a.m. | Last Modified: 23 Mar 2020, 12:23 a.m.
Panel Version: 2.5
Phenotypes
Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 24 Aug 2023, 3:54 p.m. | Last Modified: 24 Aug 2023, 3:54 p.m.
Panel Version: 4.86
The review article "Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration" (PMID:34356897) outlines the role of PITRM1 in normal mitochondrial function, it also presents the published evidence which demonstrates the consequences of variant PITRM1, in humans and functional studies.Created: 24 Aug 2023, 3:41 p.m. | Last Modified: 24 Aug 2023, 3:41 p.m.
Panel Version: 4.85
Green rating based on publications pmids 29764912; 26697887; 29383861Created: 20 Aug 2019, 12:37 p.m. | Last Modified: 17 Sep 2019, 10:24 a.m.
Panel Version: 1.485
Comment on list classification: This gene is being demoted to amber as it has not been reviewed as green by the GMS Mitochondrial specialist test group.Created: 20 Aug 2019, 12:19 p.m. | Last Modified: 20 Aug 2019, 12:19 p.m.
Panel Version: 1.478
Publications
Comment on list classification: PITRM1 identified by expert review by Konstantinos Varvagiannis on Intellectual Disability Panel https://panelapp.genomicsengland.co.uk/panels/285/.
Currently no OMIM or G2P phenotypes terms associated with the gene.
PMID: 29764912 reports on 2 consanguineous Palestinian families each with 2 affected boys. Both Palenstinian families are from Arab descent but are from different locale. PMID: 26697887 reports 2 siblings from a consanguineous Norwegian family homozygous for a missense variant (NM_014889.2:c.548G> or p.Arg183Gln). Although there is some functional work (PMID: 29383861) phenotypes are varied in severity.
There are sufficient unrelated families (>3) for PITRM1 to be classified as Green and PITRM1 is a mitochondrial matrix enzyme so therefore relevant to this panel.Created: 18 Jul 2019, 4:19 p.m. | Last Modified: 18 Jul 2019, 4:19 p.m.
Panel Version: 1.410
Comment on list classification: This should be added to the red list until further evidence arised. PMID: 26697887 reports two siblings homozygous for a PITRM1 variant (c.548G>A, p.Arg183Gln), which was followed up by functional studies in vitro. A PITRM1 +/- mouse model showed progressive ataxia and accumulation of amyloid deposits. Is not a gene within G2P or OMIM databases associated with a disorder.Created: 2 Mar 2016, 1:48 p.m.
single mutation report in literatureCreated: 7 Feb 2016, 8:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q3_23_promote_green tag was added to gene: PITRM1.
Gene: pitrm1 has been classified as Amber List (Moderate Evidence).
Gene: pitrm1 has been classified as Amber List (Moderate Evidence).
Gene: pitrm1 has been classified as Green List (High Evidence).
Publications for gene: PITRM1 were set to 26697887; 29764912; 29383861
Publications for gene: PITRM1 were set to PMID: 26697887
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
PITRM1 was created by [email protected]
PITRM1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list