Albinism or congenital nystagmus

Gene: DGUOK

Red List (low evidence)

DGUOK (deoxyguanosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000114956
EnsemblGeneIds (GRCh37): ENSG00000114956
OMIM: 601465, Gene2Phenotype
DGUOK is in 22 panels

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History Filter Activity

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: DGUOK was added gene: DGUOK was added to Albinism or congenital nystagmus. Sources: Expert Review Red Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGUOK were set to 12210798; 12205643 Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3