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Mitochondrial disorders v6.4 | PITRM1 | Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: PITRM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v6.3 | PITRM1 | Sarah Leigh edited their review of gene: PITRM1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v6.2 | PITRM1 |
Achchuthan Shanmugasundram Source NHS GMS was added to PITRM1. Source Expert Review Green was added to PITRM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Mitochondrial disorders v4.169 | PITRM1 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PITRM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.86 | PITRM1 | Sarah Leigh Tag Q3_23_promote_green tag was added to gene: PITRM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.86 | PITRM1 | Sarah Leigh Classified gene: PITRM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.86 | PITRM1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.86 | PITRM1 | Sarah Leigh Gene: pitrm1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.85 | PITRM1 | Sarah Leigh commented on gene: PITRM1: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v4.85 | PITRM1 | Sarah Leigh edited their review of gene: PITRM1: Changed publications to: 33835239, 34356897 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v2.5 | PITRM1 | Zornitza Stark reviewed gene: PITRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26697887, 29764912; Phenotypes: Cerebellar atrophy, mental retardation, spinocerebellar ataxia, cognitive decline, psychosis; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.485 | PITRM1 | Sarah Leigh changed review comment from: Based on publications pmids 29764912; 26697887; 29383861; to: Green rating based on publications pmids 29764912; 26697887; 29383861 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.478 | PITRM1 | Sarah Leigh edited their review of gene: PITRM1: Added comment: Based on publications pmids 29764912; 26697887; 29383861; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.478 | PITRM1 | Sarah Leigh Classified gene: PITRM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.478 | PITRM1 | Sarah Leigh Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.478 | PITRM1 | Sarah Leigh Gene: pitrm1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.410 | PITRM1 | Catherine Snow Classified gene: PITRM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.410 | PITRM1 |
Catherine Snow Added comment: 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. |
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Mitochondrial disorders v1.410 | PITRM1 | Catherine Snow Gene: pitrm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.409 | PITRM1 | Catherine Snow Publications for gene: PITRM1 were set to 26697887; 29764912; 29383861 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorders v1.409 | PITRM1 | Catherine Snow Publications for gene: PITRM1 were set to PMID: 26697887 |