Hyperinsulinism

Gene: PGM1

Green List (high evidence)

PGM1 (phosphoglucomutase 1)
EnsemblGeneIds (GRCh38): ENSG00000079739
EnsemblGeneIds (GRCh37): ENSG00000079739
OMIM: 171900, Gene2Phenotype
PGM1 is in 13 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Well established gene-disease association. Individuals can present with hypoglycaemia (+/- hyperinsulinism) and may not have all the syndromic features at presentation.
Sources: Literature
Created: 14 May 2024, 4:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type It, OMIM# 614921

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

5 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pgm1 has been classified as Green List (High Evidence).

5 Sep 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PGM1 were set to PMID: 24499211, 27206562

14 May 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: pgm1 has been classified as Green List (High Evidence).

14 May 2024, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: PGM1 was added gene: PGM1 was added to Hyperinsulinism. Sources: Literature Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM1 were set to PMID: 24499211, 27206562 Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, OMIM# 614921 Review for gene: PGM1 was set to GREEN gene: PGM1 was marked as current diagnostic