This Panel is marked as Retired
Epileptic encephalopathy
Gene: MOGS
MOGS (mannosyl-oligosaccharide glucosidase)
EnsemblGeneIds (GRCh38): ENSG00000115275
EnsemblGeneIds (GRCh37): ENSG00000115275
OMIM: 601336, Gene2Phenotype
MOGS is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000115275
EnsemblGeneIds (GRCh37): ENSG00000115275
OMIM: 601336, Gene2Phenotype
MOGS is in 10 panels
1 review
Sarah Leigh (Genomics England Curator)
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCLCreated: 21 Mar 2017, 3:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIb, 606056
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Congenital disorder of glycosylation, type IIb, 606056
- OMIM
- 601336
- Clinvar variants
- Variants in MOGS
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- DDG2P
- Congenital disorders of glycosylation
- COVID-19 research
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Early onset or syndromic epilepsy
History Filter Activity
21 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
21 Mar 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)MOGS was created by sleigh
21 Mar 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)MOGS was added to Epileptic encephalopathypanel. Sources: Expert Review