Monogenic hearing loss
Gene: MT-CO1EnsemblGeneIds (GRCh38): ENSG00000198804
EnsemblGeneIds (GRCh37): ENSG00000198804
OMIM: 516030, Gene2Phenotype
MT-CO1 is in 9 panels
4 reviews
Ida Ertmanska (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. The GMS reviewers commented as follows: More appropriate for specialist mitochondrial lab to test for this - 1) Alternative panel test available for this gene (R300 - Possible mitochondrial disorder - whole mitochondrial genome sequencing). 2) May not be technically feasible for all laboratories to include this gene on the panel.Created: 12 Dec 2025, 10:28 a.m. | Last Modified: 12 Dec 2025, 10:28 a.m.
Panel Version: 5.49
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As reviewed by Katherine Schon and Sarah Leigh, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.Created: 27 Jun 2025, 10:47 a.m. | Last Modified: 27 Jun 2025, 10:47 a.m.
Panel Version: 5.19
Sarah Leigh (Genomics England Curator)
There are numerous reports of mtDNA heteroplasmy associated with mitochondrial non-syndromic sensorineural hearing loss (OMIM: 500008), involving MT-CO1 variant rs199474822, and other variants, including the MT-RNR1 variant rs267606617 (PMID: 26328603; 29605341; 32169613).Created: 11 Feb 2025, 11:06 a.m. | Last Modified: 11 Feb 2025, 11:06 a.m.
Panel Version: 4.72
Sources: LiteratureCreated: 11 Feb 2025, 10:15 a.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Deafness, non-syndromic sensorineural, mitochondrial, OMIM: 500008; mitochondrial non-syndromic sensorineural hearing loss, MONDO:0010779
Publications
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Deafness, non-syndromic sensorineural, mitochondrial, OMIM: 500008
- mitochondrial non-syndromic sensorineural hearing loss, MONDO:0010779
- Tags
- OMIM
- 516030
- Clinvar variants
- Variants in MT-CO1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Ida Ertmanska (Genomics England Curator)Tag technical-limitations tag was added to gene: MT-CO1.
Removed Tag, Removed Tag, Removed Tag
Ida Ertmanska (Genomics England Curator)Tag Q2_25_expert_review was removed from gene: MT-CO1. Tag Q1_25_ promote_green was removed from gene: MT-CO1. Tag Q2_25_ NHS_review was removed from gene: MT-CO1.
Removed Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_25_ NHS_review was removed from gene: MT-CO1. Tag Q2_25_ NHS_review tag was added to gene: MT-CO1.
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: mt-co1 has been classified as Amber List (Moderate Evidence).
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_25_expert_review tag was added to gene: MT-CO1.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: mt-co1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: MT-CO1 was added gene: MT-CO1 was added to Monogenic hearing loss. Sources: Literature Q1_25_ NHS_review, Q1_25_ promote_green tags were added to gene: MT-CO1. Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL Publications for gene: MT-CO1 were set to 10577941; 16152638; 9832034; 30035268; 26328603; 29605341; 32169613 Phenotypes for gene: MT-CO1 were set to Deafness, non-syndromic sensorineural, mitochondrial, OMIM: 500008; mitochondrial non-syndromic sensorineural hearing loss, MONDO:0010779 Review for gene: MT-CO1 was set to GREEN