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Likely inborn error of metabolism v8.100 PITRM1 Arina Puzriakova Tag gene-checked was removed from gene: PITRM1.
Likely inborn error of metabolism v8.94 PITRM1 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: PITRM1.
Likely inborn error of metabolism v8.94 PITRM1 Achchuthan Shanmugasundram commented on gene: PITRM1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism v8.93 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)
Likely inborn error of metabolism v8.37 PITRM1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene has already been promoted to green rating on the Mitochondrial disorder panel. Hence, this gene can be promoted to green rating on this panel in the next GMS update.; to: 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.
Likely inborn error of metabolism v8.37 PITRM1 Achchuthan Shanmugasundram Phenotypes for gene: PITRM1 were changed from Spinocerebellar ataxia, autosomal recessive 30, OMIM:61940 to Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405
Likely inborn error of metabolism v8.36 PITRM1 Achchuthan Shanmugasundram Classified gene: PITRM1 as Amber List (moderate evidence)
Likely inborn error of metabolism v8.36 PITRM1 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene has already been promoted to green rating on the Mitochondrial disorder panel. Hence, this gene can be promoted to green rating on this panel in the next GMS update.
Likely inborn error of metabolism v8.36 PITRM1 Achchuthan Shanmugasundram Gene: pitrm1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v8.35 PITRM1 Achchuthan Shanmugasundram Phenotypes for gene: PITRM1 were changed from mental retardation, spinocerebellar ataxia, cognitive decline and psychosis to Spinocerebellar ataxia, autosomal recessive 30, OMIM:61940
Likely inborn error of metabolism v8.34 PITRM1 Achchuthan Shanmugasundram commented on gene: PITRM1: 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.
Likely inborn error of metabolism v8.34 PITRM1 Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: PITRM1.
Likely inborn error of metabolism v8.34 PITRM1 Achchuthan Shanmugasundram reviewed gene: PITRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v4.137 PITRM1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PITRM1.
Likely inborn error of metabolism v1.240 PITRM1 Sarah Leigh Classified gene: PITRM1 as Amber List (moderate evidence)
Likely inborn error of metabolism v1.240 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.
Likely inborn error of metabolism v1.240 PITRM1 Sarah Leigh Gene: pitrm1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v1.76 PITRM1 Sarah Leigh 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)
Likely inborn error of metabolism v0.4 PITRM1 Ellen McDonagh 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