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Inborn errors of metabolism

Gene: PITRM1

Amber List (moderate evidence)

PITRM1 (pitrilysin metallopeptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000107959
EnsemblGeneIds (GRCh37): ENSG00000107959
PITRM1 is in 4 panels

4 reviews

Sarah Leigh (Genomics England Curator)

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

Catherine Snow (Genomics England)

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

Ellen McDonagh (Genomics England Curator)

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single mutation report in literature
Created: 7 Feb 2016, 8:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • mental retardation, spinocerebellar ataxia, cognitive decline and psychosis
Clinvar variants
Variants in PITRM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pitrm1 has been classified as Amber List (Moderate Evidence).

6 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

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)

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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