This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- OMIM
- 172100
- Clinvar variants
- Variants in PGM3
- Penetrance
- None
- Panels with this gene
-
- Severe multi-system atopic disease with high IgE
- Likely inborn error of metabolism
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- Skeletal dysplasia
- COVID-19 research
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: PGM3 was added gene: PGM3 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PGM3 was set to Unknown