Epileptic encephalopathy
Gene: MOGSEnsemblGeneIds (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
-
- Likely inborn error of metabolism
- Congenital disorders of glycosylation
- Intellectual disability
- Early onset or syndromic epilepsy
- COVID-19 research
- Undiagnosed metabolic disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Sarah Leigh (Genomics England Curator)MOGS was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)MOGS was added to Epileptic encephalopathypanel. Sources: Expert Review