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Inborn errors 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 9 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type If 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

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)