Hyperinsulinism
Gene: PGM1EnsemblGeneIds (GRCh38): ENSG00000079739
EnsemblGeneIds (GRCh37): ENSG00000079739
OMIM: 171900, Gene2Phenotype
PGM1 is in 13 panels
1 review
Chirag Patel (Genetic Health Queensland)
Well established gene-disease association. Individuals can present with hypoglycaemia (+/- hyperinsulinism) and may not have all the syndromic features at presentation.
Sources: LiteratureCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Congenital disorder of glycosylation, type It, OMIM# 614921
- OMIM
- 171900
- Clinvar variants
- Variants in PGM1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Prepair 500+
- Pierre Robin Sequence
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Hyperinsulinism
- Congenital Disorders of Glycosylation
- Glycogen Storage Diseases
- Fetal anomalies
- Clefting disorders
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Mendeliome
- BabyScreen+ newborn screening
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pgm1 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PGM1 were set to PMID: 24499211, 27206562
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: pgm1 has been classified as Green List (High Evidence).
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