Mitochondrial disease
Gene: POLRMTEnsemblGeneIds (GRCh38): ENSG00000099821
EnsemblGeneIds (GRCh37): ENSG00000099821
OMIM: 601778, Gene2Phenotype
POLRMT is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.
Sources: LiteratureCreated: 3 Mar 2021, 7:24 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 55, MIM# 619743; intellectual disability; hypotonia
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 55, MIM# 619743
- intellectual disability
- hypotonia
- OMIM
- 601778
- Clinvar variants
- Variants in POLRMT
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: POLRMT were changed from Mitochondrial disorder; intellectual disability; hypotonia to Combined oxidative phosphorylation deficiency 55, MIM# 619743; intellectual disability; hypotonia
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: polrmt has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: POLRMT were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: polrmt has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: POLRMT was added gene: POLRMT was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: POLRMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: POLRMT were set to Mitochondrial disorder; intellectual disability; hypotonia Review for gene: POLRMT was set to GREEN