Dystonia - complex
Gene: MOGS
MOGS (mannosyl-oligosaccharide glucosidase)
EnsemblGeneIds (GRCh38): ENSG00000115275
EnsemblGeneIds (GRCh37): ENSG00000115275
OMIM: 601336, Gene2Phenotype
MOGS is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000115275
EnsemblGeneIds (GRCh37): ENSG00000115275
OMIM: 601336, Gene2Phenotype
MOGS is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
7 individuals from 6 unrelated families reported with CDGIIb. Of these, one had prominent dystonia, with forced posture of the head and of both hands, as well as a hyperkinetic movement disorder.
Sources: Expert ReviewCreated: 24 Nov 2020, 9:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIb, MIM# 606056
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert Review
- Phenotypes
-
- Congenital disorder of glycosylation, type IIb, MIM# 606056
- OMIM
- 601336
- Clinvar variants
- Variants in MOGS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Common Variable Immunodeficiency
- Predominantly Antibody Deficiency
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Dystonia - complex
- Mendeliome
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
History Filter Activity
24 Nov 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mogs has been classified as Red List (Low Evidence).
24 Nov 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MOGS was added gene: MOGS was added to Dystonia - complex. Sources: Expert Review Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOGS were set to 33058492 Phenotypes for gene: MOGS were set to Congenital disorder of glycosylation, type IIb, MIM# 606056 Review for gene: MOGS was set to RED