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Clefting disorders

Gene: PGM1

Green List (high evidence)

PGM1 (phosphoglucomutase 1)
EnsemblGeneIds (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)

Green List (high evidence)

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
Created: 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

History Filter Activity

6 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pgm1 has been classified as Green List (High Evidence).

6 Feb 2021, Gel status: 3

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

6 Feb 2021, Gel status: 3

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

6 Feb 2021, Gel status: 3

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

6 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PGM1 were set to

6 Feb 2021, Gel status: 3

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

29 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: pgm1 has been classified as Green List (High Evidence).

16 Sep 2020, Gel status: 1

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