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  2. Muscular dystrophy and myopathy_Paediatric
  3. MPDU1
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Muscular dystrophy and myopathy_Paediatric

Gene: MPDU1

Green List (high evidence)
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.
Sources: Expert Review
Created: 19 Dec 2020, 3:18 a.m.

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, 3:18 a.m.

Panel version: 0.83

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
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

History Filter Activity

19 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mpdu1 has been classified as Green List (High Evidence).

19 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mpdu1 has been classified as Green List (High Evidence).

19 Dec 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: MPDU1 was added gene: MPDU1 was added to Muscular dystrophy_Paediatric. Sources: Expert Review Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDU1 were set to 11733564; 11733556; 31741824; 29721919 Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211 Review for gene: MPDU1 was set to GREEN