Common Variable Immunodeficiency
Gene: MOGSEnsemblGeneIds (GRCh38): ENSG00000115275
EnsemblGeneIds (GRCh37): ENSG00000115275
OMIM: 601336, Gene2Phenotype
MOGS is in 13 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
4 cases in 3 unrelated families with immunodeficiency as a prominent feature of the condition. Analysis of patient cells suggest a loss of function mechanism. On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Sources: Expert listCreated: 21 Jul 2020, 2:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIb MIM#606056; Mannosyl-oligosaccharide glucosidase deficiency (MOGS)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Congenital disorder of glycosylation, type IIb MIM#606056
- Mannosyl-oligosaccharide glucosidase deficiency (MOGS)
- OMIM
- 601336
- Clinvar variants
- Variants in MOGS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Common Variable Immunodeficiency
- Predominantly Antibody Deficiency
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Dystonia - complex
- Mendeliome
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mogs has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mogs has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MOGS was added gene: MOGS was added to Common Variable Immunodeficiency. Sources: Expert list Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOGS were set to 32048120; 10788335; 24716661; 29235540 Phenotypes for gene: MOGS were set to Congenital disorder of glycosylation, type IIb MIM#606056; Mannosyl-oligosaccharide glucosidase deficiency (MOGS) Review for gene: MOGS was set to GREEN