Possible mitochondrial disorder - nuclear genes
Gene: PITRM1
Based on publications pmids 29764912; 26697887; 29383861Created: 20 Aug 2019, 12:37 p.m. | Last Modified: 20 Aug 2019, 12:37 p.m.
Panel Version: 1.2
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: 5 Aug 2019, 3:38 p.m. | Last Modified: 5 Aug 2019, 3:38 p.m.
Panel Version: 1.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
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
Publications for gene: PITRM1 were set to
gene: PITRM1 was added gene: PITRM1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: PITRM1 was set to Unknown Phenotypes for gene: PITRM1 were set to No OMIM phenotype