GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: MPDU1

MPDU1 (mannose-P-dolichol utilization defect 1)
EnsemblGeneIds (GRCh38): ENSG00000129255
EnsemblGeneIds (GRCh37): ENSG00000129255
OMIM: 604041, Gene2Phenotype
MPDU1 is in 10 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Listed in nosology paper as a condition resembling storage diseases. Severe dwarfism reported in at least one case - at least 3 reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type If 609180

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Congenital disorder of glycosylation, type If 609180

OMIM

604041

Clinvar variants

Variants in MPDU1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: MPDU1 was added gene: MPDU1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If 609180

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: MPDU1