Possible mitochondrial disorder - nuclear genes
Gene: POLRMT
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 1:12 p.m. | Last Modified: 1 Feb 2023, 1:12 p.m.
Panel Version: 2.5
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.Created: 30 Aug 2022, 9:26 a.m. | Last Modified: 30 Aug 2022, 9:26 a.m.
Panel Version: 1.102
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.Created: 29 Jul 2022, 2:42 p.m. | Last Modified: 29 Jul 2022, 2:42 p.m.
Panel Version: 1.90
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 55, OMIM: 619743
Publications
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.Created: 5 Jun 2019, 1:22 p.m.
Comment on list classification: Promoted from Red to Amber.Created: 10 May 2019, 2:20 p.m.
Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: Poster from Newcastle team at UK Neuromuscular conference 2019 with several cases (both recessive and dominant cases)Created: 10 May 2019, 1:02 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype
Publications
Tag Q3_22_rating was removed from gene: POLRMT. Tag Q3_22_NHS_review was removed from gene: POLRMT.
Source Expert Review Green was added to POLRMT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_22_NHS_review tag was added to gene: POLRMT.
Tag Q3_22_rating tag was added to gene: POLRMT.
Gene: polrmt has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: POLRMT were changed from No OMIM phenotype to Combined oxidative phosphorylation deficiency 55, OMIM:619743
Publications for gene: POLRMT were set to
Gene: polrmt has been classified as Amber List (Moderate Evidence).
Gene: polrmt has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: POLRMT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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