Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

Gene: MT-RNR2

Amber List (moderate evidence)

MT-RNR2 (mitochondrially encoded 16S RNA)
EnsemblGeneIds (GRCh38): ENSG00000210082
EnsemblGeneIds (GRCh37): ENSG00000210082
OMIM: 561010, Gene2Phenotype
MT-RNR2 is in 3 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Mode of inheritance
MITOCHONDRIAL

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 6 Jan 2017, 4:19 p.m.
Comment on list classification: From red to amber - unclear whether this should be green.
Created: 10 Feb 2016, 1:09 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
OMIM
561010
Clinvar variants
Variants in MT-RNR2
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: MT-RNR2 was added gene: MT-RNR2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene gene: MT-RNR2 was set to MITOCHONDRIAL