Infantile nystagmus
Gene: MT-CYBEnsemblGeneIds (GRCh38): ENSG00000198727
EnsemblGeneIds (GRCh37): ENSG00000198727
OMIM: 516020, Gene2Phenotype
MT-CYB is in 7 panels
1 review
Ellen McDonagh (Genomics England Curator)
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Nystagmus
Publications
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Nystagmus
- OMIM
- 516020
- Clinvar variants
- Variants in MT-CYB
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
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-CYB.
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-CYB.
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Created
Ellen McDonagh (Genomics England Curator)MT-CYB was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)MT-CYB was added to Infantile nystagmuspanel. Sources: Literature