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Possible mitochondrial disorder - nuclear genes v4.23 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.
Possible mitochondrial disorder - nuclear genes v4.23 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.
Possible mitochondrial disorder - nuclear genes v4.23 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
Possible mitochondrial disorder - nuclear genes v4.22 POLRMT Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype was last accessed on 12 March 2026.
Possible mitochondrial disorder - nuclear genes v4.22 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
Possible mitochondrial disorder - nuclear genes v4.21 POLRMT Achchuthan Shanmugasundram Publications for gene: POLRMT were set to 24386581; 33602924
Possible mitochondrial disorder - nuclear genes v4.20 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
Possible mitochondrial disorder - nuclear genes v2.5 POLRMT Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: POLRMT.
Tag Q3_22_NHS_review was removed from gene: POLRMT.
Possible mitochondrial disorder - nuclear genes v2.5 POLRMT Achchuthan Shanmugasundram reviewed gene: POLRMT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.4 POLRMT Achchuthan Shanmugasundram Source Expert Review Green was added to POLRMT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v1.102 POLRMT Arina Puzriakova edited their review of gene: POLRMT: Added comment: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, supporting the rating upgrade from Amber to Green on this panel.; Changed rating: GREEN; Changed publications to: 33602924; Changed phenotypes to: Combined oxidative phosphorylation deficiency 55, OMIM: 619743; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.97 POLRMT Arina Puzriakova Tag Q3_22_NHS_review tag was added to gene: POLRMT.
Possible mitochondrial disorder - nuclear genes v1.90 POLRMT Arina Puzriakova Tag Q3_22_rating tag was added to gene: POLRMT.
Possible mitochondrial disorder - nuclear genes v1.90 POLRMT Arina Puzriakova Classified gene: POLRMT as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v1.90 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 8 individuals from 7 unrelated families reported in literature (PMID: 33602924) with distinct variant in this gene (5 biallelic, 2 monoallelic) associated with mitochondrial dysfunction and a broad spectrum of neurological presentations. 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.
Possible mitochondrial disorder - nuclear genes v1.90 POLRMT Arina Puzriakova Gene: polrmt has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v1.89 POLRMT Arina Puzriakova Phenotypes for gene: POLRMT were changed from No OMIM phenotype to Combined oxidative phosphorylation deficiency 55, OMIM:619743
Possible mitochondrial disorder - nuclear genes v1.88 POLRMT Arina Puzriakova Publications for gene: POLRMT were set to
Possible mitochondrial disorder - nuclear genes v0.200 POLRMT Ellen McDonagh Classified gene: POLRMT as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.200 POLRMT Ellen McDonagh Added comment: Comment on list classification: After feedback from the Genomics England Clinical Team, this gene should be kept Amber as there is currently no published cases.
Possible mitochondrial disorder - nuclear genes v0.200 POLRMT Ellen McDonagh Gene: polrmt has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.184 POLRMT Ellen McDonagh Classified gene: POLRMT as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.184 POLRMT Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber.
Possible mitochondrial disorder - nuclear genes v0.184 POLRMT Ellen McDonagh Gene: polrmt has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.183 POLRMT Ellen McDonagh Mode of inheritance for gene: POLRMT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 POLRMT Carl Fratter reviewed gene: POLRMT: Rating: GREEN; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.133 POLRMT Ellen McDonagh gene: POLRMT was added
gene: POLRMT was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS
Mode of inheritance for gene: POLRMT was set to
Phenotypes for gene: POLRMT were set to No OMIM phenotype