Predominantly Antibody Deficiency

Gene: MOGS

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

• 31925597
• 30587846
• 33058492

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

• 32048120
• 10788335
• 24716661
• 29235540

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

• PMID: 31925597