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Severe multi-system atopic disease with high IgE

Gene: PGM3

Green List (high evidence)

PGM3 (phosphoglucomutase 3)
EnsemblGeneIds (GRCh38): ENSG00000013375
EnsemblGeneIds (GRCh37): ENSG00000013375
OMIM: 172100, Gene2Phenotype
PGM3 is in 10 panels

1 review

Ellen Thomas (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 23

Publications

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