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Fetal anomalies

Gene: MOGS

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

2 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, 9:09 p.m. | Last Modified: 24 Nov 2020, 9:09 p.m.
Panel Version: 0.3199

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 24 Nov 2020, 9:09 p.m.
Last Modified: 24 Nov 2020, 9:09 p.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3199

Sarah Donoghue (Royal Children's Hospital)

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

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

Created: 23 Nov 2020, 4:50 a.m.
Last Modified: 23 Nov 2020, 4:50 a.m.
Panel version: Imported from Congenital Disorders of Glycosylation panel version 0.185

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Congenital disorder of glycosylation, type IIb, OMIM:606056
  • MOGS-CDG, MONDO:0011629
OMIM
601336
Clinvar variants
Variants in MOGS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Feb 2022, 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).

14 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MOGS were set to

14 Feb 2022, 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 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MOGS was added gene: MOGS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOGS were set to Congenital disorder of glycosylation, type IIb, OMIM:606056; MOGS-CDG, MONDO:0011629