Inborn errors of metabolismGene: PITRM1
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: 1.240
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 literature
Created: 7 Feb 2016, 8:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: pitrm1 has been classified as Amber List (Moderate Evidence).
Source Expert Review Green was added to PITRM1. Added phenotypes mental retardation, spinocerebellar ataxia, cognitive decline and psychosis for gene: PITRM1 Publications for gene PITRM1 were changed from PMID: 26697887 to 26697887; 29383861; 29764912 Rating Changed from Red List (low evidence) to Green List (high evidence)
Sarah Leigh: Associated with phenotype in O
gene: PITRM1 was added gene: PITRM1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PITRM1 were set to PMID: 26697887 Phenotypes for gene: PITRM1 were set to mental retardation, spinocerebellar ataxia, cognitive decline and psychosis