Possible mitochondrial disorder - nuclear genes

Gene: POLRMT

Green List (high evidence)

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

Green List (high evidence)

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

• 33602924

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.

Green List (high evidence)

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

• none found