Severe multi-system atopic disease with high IgE
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Immunodeficiency 23
- OMIM
- 172100
- Clinvar variants
- Variants in PGM3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Skeletal dysplasia
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Severe multi-system atopic disease with high IgE
- Fetal anomalies
History Filter Activity
19 Dec 2016, Gel status: 4
panel promoted to version 1
Ellen Thomas (Genomics England Curator)Literature search, UKGTN search - no other genes identified for Hyper-IgE syndrome
19 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (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
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 Dec 2016, Gel status: 0
Added New Source
Ellen Thomas (Genomics England Curator)PGM3 was added to Severe multi-system atopic disease with high IgEpanel. Sources: Literature
19 Dec 2016, Gel status: 0
Created
Ellen Thomas (Genomics England Curator)PGM3 was created by EllenThomas