Infantile nystagmus

Gene: DGUOK

Red List (low evidence)

DGUOK (deoxyguanosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000114956
EnsemblGeneIds (GRCh37): ENSG00000114956
OMIM: 601465, Gene2Phenotype
DGUOK is in 18 panels

1 review

Ellen McDonagh (Genomics England Curator)

Two cases reported on OMIM which include nystagmus as a phenotype (see publications).
Created: 15 Aug 2016, 9:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 3

Publications

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).

15 Aug 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DGUOK was added to Infantile nystagmuspanel. Sources: Other

15 Aug 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DGUOK was created by ellenmcdonagh