Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: PGM2L1

No list

PGM2L1 (phosphoglucomutase 2 like 1)
EnsemblGeneIds (GRCh38): ENSG00000165434
EnsemblGeneIds (GRCh37): ENSG00000165434
OMIM: 611610, Gene2Phenotype
PGM2L1 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID: 33979636:
- Bi-allelic PTVs in 4 unrelated individuals. All four affected individuals had severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris. Early obesity and seizures were present in three individuals.
- Studies on patient fibroblasts and cell lines indicated that PGM2L1 deficiency causes a decrease, but not a disappearance, of the sugar bisphosphates needed for the formation of NDP-sugars and that there is no evidence that this leads to a glycosylation defect.
Sources: Literature
Created: 12 Jun 2021, 3:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Neurodevelopmental disorder
OMIM
611610
Clinvar variants
Variants in PGM2L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Jun 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: PGM2L1 was added gene: PGM2L1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PGM2L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM2L1 were set to 33979636 Phenotypes for gene: PGM2L1 were set to Neurodevelopmental disorder Review for gene: PGM2L1 was set to GREEN