Infantile nystagmus

Gene: MT-ATP6

Red List (low evidence)

MT-ATP6 (mitochondrially encoded ATP synthase 6)
EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels

1 review

Ellen McDonagh (Genomics England Curator)

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Retinal degeneration and nystagmus; Nystagmus; Optic neuropathy and nystagmus

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

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MT-ATP6 were set to 26448634

7 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MT-ATP6 was added to Infantile nystagmuspanel. Sources: Literature

7 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MT-ATP6 was created by ellenmcdonagh