Mitochondrial disorders
Gene: POLRMT
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:16 p.m.
Panel Version: 3.6
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.Created: 29 Jul 2022, 2:41 p.m. | Last Modified: 29 Jul 2022, 2:41 p.m.
Panel Version: 2.112
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.Created: 5 Mar 2021, 6:39 a.m. | Last Modified: 5 Mar 2021, 6:39 a.m.
Panel Version: 2.20
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial disorder; intellectual disability; hypotonia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Tag Q3_22_rating 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_rating tag was added to gene: POLRMT.
Gene: polrmt has been classified as Amber List (Moderate Evidence).
Publications for gene: POLRMT were set to
Phenotypes for gene: POLRMT were changed from No OMIM phenotype to Combined oxidative phosphorylation deficiency 55, OMIM:619743
Source Expert Review Red was added to POLRMT. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
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