Cardiomyopathy_Paediatric
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: Severe cardiomyopathy can be a feature.Created: 30 Sep 2020, 10 a.m. | Last Modified: 30 Sep 2020, 10 a.m.
Panel Version: 0.16
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 abnormalities
Sources: Expert ReviewCreated: 30 Sep 2020, 6:54 a.m.
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
- Phenotypes
-
- Congenital disorder of glycosylation, type It, MIM# 614921
- Dilated cardiomyopathy
- Tags
- OMIM
- 171900
- Clinvar variants
- Variants in PGM1
- Penetrance
- Complete
- 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
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: PGM1.
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 Dilated Cardiomyopathy; Cleft Palate; Bifid Uvula; Hypothyroidism; Hepatopathy; Elevated transaminases; Hypogonadotropic hypogonadism; Hypoglycaemia; Rhabdomyolysis; Skeletal myopathy; Malignant hypothermia; Abnormal Coagulation to Congenital disorder of glycosylation, type It, MIM# 614921; Dilated cardiomyopathy
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pgm1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Sarah Donoghue (Royal Children's Hospital)gene: PGM1 was added gene: PGM1 was added to Cardiomyopathy_Paediatric. Sources: Expert Review Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM1 were set to PMID: 31563034; PMID: 26303607PMID: 24878975; PMID: 27206562; PMID: 29858906; PMID: 32681750 Phenotypes for gene: PGM1 were set to Dilated Cardiomyopathy; Cleft Palate; Bifid Uvula; Hypothyroidism; Hepatopathy; Elevated transaminases; Hypogonadotropic hypogonadism; Hypoglycaemia; Rhabdomyolysis; Skeletal myopathy; Malignant hypothermia; Abnormal Coagulation Penetrance for gene: PGM1 were set to Complete Review for gene: PGM1 was set to GREEN gene: PGM1 was marked as current diagnostic