Likely inborn error of metabolism

Gene: PITRM1

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 12 Mar 2026, 10:16 a.m. | Last Modified: 12 Mar 2026, 10:16 a.m.

Panel Version: 8.94

Comment on list classification: This gene has already been promoted to green rating on the Mitochondrial disorders panel. Hence, this gene can be promoted to green rating on this panel in the next GMS update.

Created: 7 Jun 2025, 10:49 p.m. | Last Modified: 7 Jun 2025, 10:51 p.m.

Panel Version: 8.37

Zornitza Stark (Australian Genomics) reviewed on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/PITRM1/) that three families were reported with two unique variants, and mitochondrial dysfunction was identified in in vitro functional assays and mouse model.

Created: 7 Jun 2025, 10:45 p.m. | Last Modified: 7 Jun 2025, 10:45 p.m.

Panel Version: 8.34

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405

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.

Green List (high evidence)

single mutation report in literature

Created: 7 Feb 2016, 8:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal