Congenital disorders of glycosylation
Gene: PMM2

PMM2 (phosphomannomutase 2)
EnsemblGeneIds (GRCh38): ENSG00000140650
EnsemblGeneIds (GRCh37): ENSG00000140650
OMIM: 601785, Gene2Phenotype
PMM2 is in 21 panels

3 reviews

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=O15305-1
Created: 9 Jan 2020, 2:45 p.m. | Last Modified: 9 Jan 2020, 2:45 p.m.

Panel Version: 2.0

Created: 9 Jan 2020, 2:45 p.m.
Last Modified: 9 Jan 2020, 2:45 p.m.
Panel version: 2.0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Numerous variants reported.
Created: 19 Dec 2016, 11:04 a.m.

Created: 19 Dec 2016, 11:04 a.m.

Panel version: 0.95

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

The most common N-glycosylation CDG subtype.

Mutations in ALG6 have a modifier effect (see PMID 11875054)
Created: 9 Dec 2016, 3:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 9 Dec 2016, 3:43 p.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Eligibility statement prior genetic testing
Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Literature
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory

Phenotypes

Congenital disorder of glycosylation, type Ia 212065
Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation)

OMIM

601785

Clinvar variants

Variants in PMM2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

19 Feb 2017, Gel status: 4

Upload gene information

Rebecca Foulger (Genomics England curator)

PMM2 was added to Congenital disorders of glycosylationpanel. Sources: Eligibility statement prior genetic testing

19 Dec 2016, Gel status: 4