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Likely inborn error of metabolism v8.98 POLRMT Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism v8.98 POLRMT Achchuthan Shanmugasundram commented on gene: POLRMT: PMID:40583167 (2026) reported the identification of POLRMT variants in six new patients from six unrelated families. Five of these patients had biallelic variants and one patient had monoallelic POLRMT variant. The patients showed extended phenotypic abnormalities often presenting early in life with features including global developmental delay, cognitive impairment, short stature and muscular hypotonia.
Likely inborn error of metabolism v8.98 POLRMT Achchuthan Shanmugasundram commented on gene: POLRMT: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism v8.98 POLRMT Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism v8.98 POLRMT Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There are nine unrelated families with biallelic POLRMT variants and three unrelated families with monoallelic variants reported in the literature. Hence, this gene can be rated green with 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' as MOI.
Likely inborn error of metabolism v8.98 POLRMT Achchuthan Shanmugasundram Mode of inheritance for gene: POLRMT was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v8.97 POLRMT Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype was last accessed on 12 March 2026.
Likely inborn error of metabolism v8.97 POLRMT Achchuthan Shanmugasundram Phenotypes for gene: POLRMT were changed from Combined oxidative phosphorylation deficiency 55, OMIM:619743 to Combined oxidative phosphorylation deficiency 55, OMIM:619743; combined oxidative phosphorylation deficiency 55, MONDO:0859228
Likely inborn error of metabolism v8.96 POLRMT Achchuthan Shanmugasundram Publications for gene: POLRMT were set to 24386581; 33602924
Likely inborn error of metabolism v8.95 POLRMT Achchuthan Shanmugasundram edited their review of gene: POLRMT: Added comment: PMID:40583167 (2026) reported the identification of POLRMT variants in six new patients from six unrelated families. Five of these patients had biallelic variants and one patient had monoallelic POLRMT variant. The patients showed extended phenotypic abnormalities often presenting early in life with features including global developmental delay, cognitive impairment, short stature and muscular hypotonia.; Changed publications to: 33602924, 40583167; Changed phenotypes to: Combined oxidative phosphorylation deficiency 55, OMIM:619743, combined oxidative phosphorylation deficiency 55, MONDO:0859228; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v8.94 POLRMT Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: POLRMT.
Likely inborn error of metabolism v8.94 POLRMT Achchuthan Shanmugasundram commented on gene: POLRMT: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism v8.93 POLRMT Achchuthan Shanmugasundram Source Expert Review Green was added to POLRMT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v8.39 POLRMT Achchuthan Shanmugasundram Classified gene: POLRMT as Amber List (moderate evidence)
Likely inborn error of metabolism v8.39 POLRMT Achchuthan Shanmugasundram Added comment: Comment on list classification: POLRMT has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/POLRMT/) as detailed in the below reviews copied from that panel.

As there is sufficient evidence available for the gene-disease association, this gene can be promoted to green rating on this panel in the next GMS update.
Likely inborn error of metabolism v8.39 POLRMT Achchuthan Shanmugasundram Gene: polrmt has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v8.38 POLRMT Achchuthan Shanmugasundram reviewed gene: POLRMT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism v8.38 POLRMT Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: POLRMT.
Likely inborn error of metabolism v8.38 POLRMT Achchuthan Shanmugasundram Deleted their review
Likely inborn error of metabolism v8.38 POLRMT Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v9.18
Likely inborn error of metabolism v8.38 POLRMT Achchuthan Shanmugasundram gene: POLRMT was added
gene: POLRMT was added to Likely inborn error of metabolism. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: POLRMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLRMT were set to 24386581; 33602924
Phenotypes for gene: POLRMT were set to Combined oxidative phosphorylation deficiency 55, OMIM:619743