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BabyScreen+ newborn screening

Gene: PGM1

Green List (high evidence)

PGM1 (phosphoglucomutase 1)
EnsemblGeneIds (GRCh38): ENSG00000079739
EnsemblGeneIds (GRCh37): ENSG00000079739
OMIM: 171900, Gene2Phenotype
PGM1 is in 13 panels

1 review

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

GDG type 1t = PGM1-CDG

can present in the first year of life

treatable with galactose (PMID: 30982613; PMID: 26303607; PMID: 28617415)
phase 1 trials of AVTX-801 set to commence
Created: 1 Nov 2022, 11:13 a.m. | Last Modified: 1 Nov 2022, 11:13 a.m.
Panel Version: 0.719

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cleft lip; bifid uvula; hepatopathy; intermittent hypoglycemia; short stature; exercise intolerance; increased serum creatine kinase; rhabdomyolysis; dilated cardiomyopathy; hypogonadotropic hypogonadism

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Congenital disorder of glycosylation, type It, MIM# 614921
Tags
treatable metabolic
OMIM
171900
Clinvar variants
Variants in PGM1
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag metabolic tag was added to gene: PGM1.

2 Nov 2022, 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).

2 Nov 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: PGM1.

18 Sep 2022, Gel status: 3

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 gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, MIM# 614921