Predominantly Antibody Deficiency
Gene: MOGS
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
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
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
Gene: mogs has been classified as Green List (High Evidence).
Phenotypes for gene: MOGS were changed from to Congenital disorder of glycosylation, type IIb, MIM# 606056
Publications for gene: MOGS were set to
Mode of inheritance for gene: MOGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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