Albinism or congenital nystagmus
Gene: MT-CO1

MT-CO1 (mitochondrially encoded cytochrome c oxidase I)
EnsemblGeneIds (GRCh38): ENSG00000198804
EnsemblGeneIds (GRCh37): ENSG00000198804
OMIM: 516030, Gene2Phenotype
MT-CO1 is in 9 panels

0 reviews

Details

Mode of Inheritance

MITOCHONDRIAL

Sources

Expert Review Red

Phenotypes

Nystagmus
Optic neuropathy

OMIM

516030

Clinvar variants

Variants in MT-CO1

Penetrance

None

Publications

26448634

Panels with this gene

History Filter Activity

18 Oct 2023, Gel status: 1

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1.

12 Sep 2023, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: MT-CO1 was added gene: MT-CO1 was added to Albinism or congenital nystagmus. Sources: Expert Review Red Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL Publications for gene: MT-CO1 were set to 26448634 Phenotypes for gene: MT-CO1 were set to Nystagmus; Optic neuropathy

Albinism or congenital nystagmus Gene: MT-CO1