Albinism or congenital nystagmus
Gene: MT-ND2
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
EnsemblGeneIds (GRCh38): ENSG00000198763
EnsemblGeneIds (GRCh37): ENSG00000198763
OMIM: 516001, Gene2Phenotype
MT-ND2 is in 7 panels
0 reviews
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Red
- Phenotypes
-
- Retinal degeneration and nystagmus
- OMIM
- 516001
- Clinvar variants
- Variants in MT-ND2
- Penetrance
- None
- Publications
- 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-ND2.
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-ND2.
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-ND2 was added gene: MT-ND2 was added to Albinism or congenital nystagmus. Sources: Expert Review Red Mode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL Publications for gene: MT-ND2 were set to 26448634 Phenotypes for gene: MT-ND2 were set to Retinal degeneration and nystagmus