Predominantly Antibody Deficiency

Gene: MOGS

Green List (high evidence)

MOGS (mannosyl-oligosaccharide glucosidase)
EnsemblGeneIds (GRCh38): ENSG00000115275
EnsemblGeneIds (GRCh37): ENSG00000115275
OMIM: 601336, Gene2Phenotype
MOGS is in 13 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six unrelated families reported. Common features include: hypotonia, global developmental delay, feeding problems, seizures, hypogammaglobulinaemia, variable problems with cardiac, dysmorpholology overlapping fingers, short palpebral fissures, micrognathia, can have upsweeping hair at front. MRI may be normal, but can have generalised atrophy. Transferrin isoforms may be normal - look at urine Gl4 (tetrasaccharide) increased in cases. Some pathogenic missense cluster in the region (~p.530-640) surrounding the active site (p.583).
Created: 24 Nov 2020, 9:07 p.m. | Last Modified: 24 Nov 2020, 9:07 p.m.
Panel Version: 0.58

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIb, MIM# 606056

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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 list
Created: 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

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

LOF proven - PMID: 31925597

Some pathogenic missense cluster in the region (~p.530-640) surrounding the active site (p.583).
Created: 11 May 2020, 9:31 p.m. | Last Modified: 11 May 2020, 9:31 p.m.
Panel Version: 0.2805

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIb 606056

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIb, MIM# 606056
OMIM
601336
Clinvar variants
Variants in MOGS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mogs has been classified as Green List (High Evidence).

24 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MOGS were changed from to Congenital disorder of glycosylation, type IIb, MIM# 606056

24 Nov 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MOGS were set to

24 Nov 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MOGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MOGS was added gene: MOGS was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: MOGS was set to Unknown