Congenital Disorders of Glycosylation
Gene: MPDU1

MPDU1 (mannose-P-dolichol utilization defect 1)
EnsemblGeneIds (GRCh38): ENSG00000129255
EnsemblGeneIds (GRCh37): ENSG00000129255
OMIM: 604041, Gene2Phenotype
MPDU1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported. Prominent ichthyosis reported in some, in addition to neurological features including DD/ID, seizures, hypotonia. Some reported with features overlapping dystroglycanopathy, including raised CK.
Created: 19 Dec 2020, 3:03 a.m. | Last Modified: 19 Dec 2020, 3:03 a.m.

Panel Version: 0.261

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211

Publications

Created: 19 Dec 2020, 3:03 a.m.
Last Modified: 19 Dec 2020, 3:03 a.m.
Panel version: 0.261

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Congenital disorder of glycosylation, type If, MIM# 609180
MPDU1-CDG, MONDO:0012211

OMIM

604041

Clinvar variants

Variants in MPDU1

Penetrance

None

Publications

Panels with this gene