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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. |
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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) |
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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. |
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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 |