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Intellectual disability syndromic and non-syndromic

Gene: MOGS

Green List (high evidence)

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

1 review

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

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

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MOGS was set to Unknown