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Mitochondrial disorders v9.46 POLRMT Achchuthan Shanmugasundram Publications for gene: POLRMT were set to 24386581; 33602924
Mitochondrial disorders v9.45 POLRMT Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: There are nine unrelated families with biallelic POLRMT variants and there unrelated families with monoallelic variants reported in the literature. Hence, this gene can be rated green with 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' MOI.; to: 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.
Mitochondrial disorders v9.45 POLRMT Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There are nine unrelated families with biallelic POLRMT variants and there unrelated families with monoallelic variants reported in the literature. Hence, this gene can be rated green with 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' MOI.
Mitochondrial disorders v9.45 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
Mitochondrial disorders v9.44 POLRMT Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype was last accessed on 12 March 2026.
Mitochondrial disorders v9.44 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
Mitochondrial disorders v9.43 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
Mitochondrial disorders v3.6 POLRMT Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: POLRMT.
Mitochondrial disorders v3.6 POLRMT Achchuthan Shanmugasundram reviewed gene: POLRMT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.5 POLRMT Achchuthan Shanmugasundram Source Expert Review Green was added to POLRMT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v2.112 POLRMT Arina Puzriakova Tag Q3_22_rating tag was added to gene: POLRMT.
Mitochondrial disorders v2.112 POLRMT Arina Puzriakova Classified gene: POLRMT as Amber List (moderate evidence)
Mitochondrial disorders v2.112 POLRMT Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to promote this gene to Green at the next GMS panel update.

POLRMT is associated with a relevant phenotype in OMIM (MIM# 619743). At least 7 unrelated families reported in literature (PMID: 33602924) with distinct variant in this gene associated with mitochondrial dysfunction and a broad spectrum of neurological presentations.
Mitochondrial disorders v2.112 POLRMT Arina Puzriakova Gene: polrmt has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.111 POLRMT Arina Puzriakova Publications for gene: POLRMT were set to
Mitochondrial disorders v2.110 POLRMT Arina Puzriakova Phenotypes for gene: POLRMT were changed from No OMIM phenotype to Combined oxidative phosphorylation deficiency 55, OMIM:619743
Mitochondrial disorders v2.108 POLRMT Arina Puzriakova Source Expert Review Red was added to POLRMT.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.20 POLRMT Zornitza Stark Deleted their comment
Mitochondrial disorders v2.20 POLRMT Zornitza Stark edited their review of gene: POLRMT: Added comment: 8 individuals from 7 families reported. 5 families with bi-allelic variants and 2 with heterozygous variants. Affected individuals presented with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype.; Changed rating: GREEN; Changed publications: 33602924; Changed phenotypes: Mitochondrial disorder, intellectual disability, hypotonia; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Set current diagnostic: yes
Mitochondrial disorders v2.5 POLRMT Zornitza Stark reviewed gene: POLRMT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v1.412 POLRMT Sarah Leigh reviewed gene: POLRMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.411 POLRMT Sarah Leigh gene: POLRMT was added
gene: POLRMT was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: POLRMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLRMT were set to No OMIM phenotype