Infantile nystagmus
Gene: DGUOK
DGUOK (deoxyguanosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000114956
EnsemblGeneIds (GRCh37): ENSG00000114956
OMIM: 601465, Gene2Phenotype
DGUOK is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000114956
EnsemblGeneIds (GRCh37): ENSG00000114956
OMIM: 601465, Gene2Phenotype
DGUOK is in 21 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Other
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 3
- OMIM
- 601465
- Clinvar variants
- Variants in DGUOK
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Mitochondrial liver disease, including transient infantile liver failure
- Mitochondrial DNA maintenance disorder
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Albinism or congenital nystagmus
- Acute rhabdomyolysis
- Undiagnosed metabolic disorders
- Infantile nystagmus
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Rhabdomyolysis and metabolic muscle disorders
- Ductal plate malformation
- Cholestasis
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Polycystic liver disease
- Hereditary neuropathy
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