Congenital Disorders of Glycosylation

Gene: MOGS

Green List (high evidence)

Can have normal serum transferrin isoforms
Urine tetrasaccharide (Gl4) increased in affected cases

Created: 23 Nov 2020, 4:50 a.m. | Last Modified: 23 Nov 2020, 4:50 a.m.

Panel Version: 0.185

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
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

Publications

• PMID: 30587846, PMID: 31925597,

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Six unrelated families reported.

Created: 24 Nov 2020, 8:57 p.m. | Last Modified: 24 Nov 2020, 8:57 p.m.

Panel Version: 0.188

LOF proven - PMID: 31925597 Some pathogenic missense cluster in the region (~p.530-640) surrounding the active site (p.583).

Created: 12 May 2020, 8:22 a.m. | Last Modified: 12 May 2020, 8:22 a.m.

Panel Version: 0.47

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 31925597
• 33058492