Ketotic hypoglycaemia
Gene: PGM1
PGM1 (phosphoglucomutase 1)
EnsemblGeneIds (GRCh38): ENSG00000079739
EnsemblGeneIds (GRCh37): ENSG00000079739
OMIM: 171900, Gene2Phenotype
PGM1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000079739
EnsemblGeneIds (GRCh37): ENSG00000079739
OMIM: 171900, Gene2Phenotype
PGM1 is in 12 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: After internal feedback, promoted this gene to green.Created: 14 Jun 2016, 8:59 a.m.
Comment on list classification: Demoted from green to amber as unsure of whether this gene should be included on this panel. This is a confirmed DD gene for congenital disorder of glycosylation, Type IT. 16 families reported in PMID: 24499211, all patients had diminished phosphoglucomutase 1 enzyme activity (% of controls) and point mutations or single basepair deletions in the PGM1 gene were identified in all patients.Created: 8 Jun 2016, 8:33 a.m.
Alexander Broomfield (Central Manchester Foundation Trust)
Hypoglycaemia common normaly though unclear if this is hypoketotic or notCreated: 20 Oct 2015, 6:13 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Glycogen storage disease XIV, 612934
- Congenital disorder of glycosylation, type It, 614921
- Glycogen Storage Disease Type XIV
- Glycogen Storage Disorders- Muscle
- Glycogen Storage Disease
- OMIM
- 171900
- Clinvar variants
- Variants in PGM1
- Penetrance
- Complete
- Panels with this gene
-
- Ketotic hypoglycaemia
- Glycogen storage disease
- Fetal anomalies
- Clefting
- Undiagnosed metabolic disorders
- Intellectual disability
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- DDG2P
History Filter Activity
14 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
14 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
8 Jun 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
19 Oct 2015, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PGM1 was added to Ketotic hypoglycaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN