Congenital disorders of glycosylation
Gene: PGM3
PGM3 (phosphoglucomutase 3)
EnsemblGeneIds (GRCh38): ENSG00000013375
EnsemblGeneIds (GRCh37): ENSG00000013375
OMIM: 172100, Gene2Phenotype
PGM3 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000013375
EnsemblGeneIds (GRCh37): ENSG00000013375
OMIM: 172100, Gene2Phenotype
PGM3 is in 11 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 10 variants reported.Created: 19 Dec 2016, 4:20 p.m.
Daniel Ungar (University of York, Department of Biology)
hyper-IgE syndrome, glycosylation defects are specific to immune cells, not observed on common biomarkers such as transferrin and ApoECreated: 13 Dec 2016, 9:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Immunodeficiency 23 615816
- OMIM
- 172100
- Clinvar variants
- Variants in PGM3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- COVID-19 research
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Severe multi-system atopic disease with high IgE
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Intellectual disability
History Filter Activity
19 Dec 2016, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 19th December 2016
19 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 Dec 2016, Gel status: 0
Upload gene information
Sarah Leigh (Genomics England Curator)PGM3 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory,UKGTN
19 Dec 2016, Gel status: 0
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene PGM3 were set to Immunodeficiency 23 615816
13 Dec 2016, Gel status: 0
Added New Source
Daniel Ungar (University of York, Department of Biology)PGM3 was added to Congenital disorders of glycosylationpanel. Sources: Literature
13 Dec 2016, Gel status: 0
Created
Daniel Ungar (University of York, Department of Biology)PGM3 was created by ungardani