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Intellectual disability syndromic and non-syndromic

Gene: PGM2L1

Green List (high evidence)

PGM2L1 (phosphoglucomutase 2 like 1)
EnsemblGeneIds (GRCh38): ENSG00000165434
EnsemblGeneIds (GRCh37): ENSG00000165434
OMIM: 611610, Gene2Phenotype
PGM2L1 is in 4 panels

1 review

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 33979636:
- Hom/chet 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: 7 Jun 2021, 5:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder

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
  • Neurodevelopmental disorder
OMIM
611610
Clinvar variants
Variants in PGM2L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

Gene: pgm2l1 has been classified as Green List (High Evidence).

7 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

Gene: pgm2l1 has been classified as Green List (High Evidence).

7 Jun 2021, Gel status: 0

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

Chern Lim (Victorian Clinical Genetics Services)

gene: PGM2L1 was added gene: PGM2L1 was added to Intellectual disability syndromic and non-syndromic. 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 gene: PGM2L1 was marked as current diagnostic