Infantile nystagmus

Gene: MT-ND2

Red List (low evidence)

MT-ND2 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000198763
EnsemblGeneIds (GRCh37): ENSG00000198763
OMIM: 516001, Gene2Phenotype
MT-ND2 is in 7 panels

1 review

Ellen McDonagh (Genomics England Curator)

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Retinal degeneration and nystagmus

Publications

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinal degeneration and nystagmus
OMIM
516001
Clinvar variants
Variants in MT-ND2
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

Created

Ellen McDonagh (Genomics England Curator)

MT-ND2 was created by ellenmcdonagh

7 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MT-ND2 was added to Infantile nystagmuspanel. Sources: Literature