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  2. Likely inborn error of metabolism
  3. MPDU1
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Likely inborn error of metabolism

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 10 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type If, OMIM:609180
  • Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
OMIM
604041
Clinvar variants
Variants in MPDU1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MPDU1 were changed from Congenital disorder of glycosylation, type If 609180; Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Congenital disorder of glycosylation, type If, OMIM:609180; Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways)

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MPDU1. Source London North GLH was added to MPDU1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Congenital disorder of glycosylation, type If 609180; Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) for gene: MPDU1 Publications for gene MPDU1 were changed from 11733556 to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: MPDU1 was added gene: MPDU1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDU1 were set to 11733556 Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If 609180; Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways)