Clefting disorders
Gene: PGM1Comment 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
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
Gene: pgm1 has been classified as Green List (High Evidence).
Phenotypes for gene: PGM1 were changed from Cleft palate to Congenital disorder of glycosylation, type It 614921; Cleft palate
Publications for gene: PGM1 were set to 31563034; 26303607; 24878975; PMID: 27206562; PMID: 29858906; PMID: 32681750
Publications for gene: PGM1 were set to PMID: 31563034; PMID: 26303607PMID: 24878975; PMID: 27206562; PMID: 29858906; PMID: 32681750
Publications for gene: PGM1 were set to
Mode of inheritance for gene: PGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: pgm1 has been classified as Green List (High Evidence).
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