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Intellectual disability

Gene: POLRMT

Green List (high evidence)
POLRMT (RNA polymerase mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000099821
EnsemblGeneIds (GRCh37): ENSG00000099821
OMIM: 601778, Gene2Phenotype
POLRMT is in 4 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: OMIM phenotype was last accessed on 12 March 2026.
Created: 12 Mar 2026, 2:49 p.m. | Last Modified: 12 Mar 2026, 2:49 p.m.
Panel Version: 9.303
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.
Created: 12 Mar 2026, 2:47 p.m. | Last Modified: 12 Mar 2026, 2:47 p.m.
Panel Version: 9.301

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 55, OMIM:619743; combined oxidative phosphorylation deficiency 55, MONDO:0859228

Publications

Created: 12 Mar 2026, 2:47 p.m.
Last Modified: 12 Mar 2026, 2:47 p.m.
Panel version: 9.301

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 5:50 p.m. | Last Modified: 30 Jan 2023, 5:50 p.m.
Panel Version: 4.53
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
Created: 29 Jul 2022, 2:41 p.m.
Last Modified: 29 Jul 2022, 2:41 p.m.
Copied from panel: Mitochondrial disorders v2.112

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Created: 23 Mar 2020, 12:40 a.m.
Last Modified: 23 Mar 2020, 12:40 a.m.
Copied from panel: Mitochondrial disorders v2.112

Sarah Leigh (Genomics England Curator)

I don't know

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
Created: 23 Jul 2019, 10:13 a.m.
Last Modified: 23 Jul 2019, 10:13 a.m.
Copied from panel: Mitochondrial disorders v2.112

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 55, OMIM:619743
  • combined oxidative phosphorylation deficiency 55, MONDO:0859228
OMIM
601778
Clinvar variants
Variants in POLRMT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2026, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

12 Mar 2026, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: POLRMT were set to 24386581; 33602924

30 Jan 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating was removed from gene: POLRMT.

30 Jan 2023, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to POLRMT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jul 2022, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: POLRMT was added gene: POLRMT was added to Intellectual disability. Sources: NHS GMS,Expert Review Amber Q3_22_rating tags were added to gene: POLRMT. Mode of inheritance for gene: POLRMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: POLRMT were set to 24386581; 33602924 Phenotypes for gene: POLRMT were set to Combined oxidative phosphorylation deficiency 55, OMIM:619743