Clefting disorders
Gene: PGM1EnsemblGeneIds (GRCh38): ENSG00000079739
EnsemblGeneIds (GRCh37): ENSG00000079739
OMIM: 171900, Gene2Phenotype
PGM1 is in 13 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Cleft palate is a frequent association.Created: 30 Sep 2020, 10:03 a.m. | Last Modified: 30 Sep 2020, 10:03 a.m.
Panel Version: 0.41
Sarah Donoghue (Royal Children's Hospital)
Mixed type disorder of glycosylation - may have type I/II pattern
Often glycosylation abnormalities less prominent in adulthood
May also normalise with high milk intake
Abnormalities of coagulation, hypothyroidism, hypogonadotrophic hypogonadism, hypoglycaemia, can have abnormal IGF1, IGFB3
This condition is treatable with galactose - may correct glycosylation abnormalitiesCreated: 30 Sep 2020, 6:58 a.m. | Last Modified: 30 Sep 2020, 6:58 a.m.
Panel Version: 0.38
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dilated Cardiomyopathy; Cleft Palate; Bifid Uvula; Hypothyroidism; Hepatopathy; Elevated transaminases; Hypogonadotropic hypogonadism; Hypoglycaemia; Rhabdomyolysis; Skeletal myopathy; Malignant hypothermia; Abnormal Coagulation
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
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Congenital disorder of glycosylation, type It 614921
- Cleft palate
- 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 Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PGM1 were changed from Cleft palate to Congenital disorder of glycosylation, type It 614921; Cleft palate
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PGM1 were set to 31563034; 26303607; 24878975; PMID: 27206562; PMID: 29858906; PMID: 32681750
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PGM1 were set to PMID: 31563034; PMID: 26303607PMID: 24878975; PMID: 27206562; PMID: 29858906; PMID: 32681750
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PGM1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PGM1 was added gene: PGM1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red Mode of inheritance for gene: PGM1 was set to Unknown Phenotypes for gene: PGM1 were set to Cleft palate