Infantile nystagmus

Gene: MT-CO1

Red List (low evidence)

MT-CO1 (mitochondrially encoded cytochrome c oxidase I)
EnsemblGeneIds (GRCh38): ENSG00000198804
EnsemblGeneIds (GRCh37): ENSG00000198804
OMIM: 516030, Gene2Phenotype
MT-CO1 is in 7 panels

1 review

Ellen McDonagh (Genomics England Curator)

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Nystagmus; Optic neuropathy

Publications

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nystagmus
  • Optic neuropathy
OMIM
516030
Clinvar variants
Variants in MT-CO1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

21/Dec/2016: panel revised according to expert review, addition of green genes from the Ocular and oculo-cutaneous albinism (Version 1.1) gene panel and further curation.

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

7 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MT-CO1 was added to Infantile nystagmuspanel. Sources: Literature

7 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MT-CO1 was created by ellenmcdonagh