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Possible mitochondrial disorder - nuclear genes

Gene: POLRMT

Amber List (moderate evidence)

POLRMT (RNA polymerase mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000099821
EnsemblGeneIds (GRCh37): ENSG00000099821
OMIM: 601778, Gene2Phenotype
POLRMT is in 2 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

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.

Carl Fratter (Oxford University Hospitals NHS Trust)

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
OMIM
601778
Clinvar variants
Variants in POLRMT
Penetrance
None
Panels with this gene

History Filter Activity

5 Jun 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: polrmt has been classified as Amber List (Moderate Evidence).

10 May 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: polrmt has been classified as Amber List (Moderate Evidence).

10 May 2019, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: POLRMT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 May 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

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