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Inborn errors of metabolism

Gene: PGM3

Green List (high evidence)

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

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History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Immunodeficiency 23 for gene: PGM3

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PGM3 was added gene: PGM3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM3 were set to 24698316 Phenotypes for gene: PGM3 were set to Immunodeficiency 23