Fetal anomalies
Gene: PGM3

PGM3 (phosphoglucomutase 3)
EnsemblGeneIds (GRCh38): ENSG00000013375
EnsemblGeneIds (GRCh37): ENSG00000013375
OMIM: 172100, Gene2Phenotype
PGM3 is in 11 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.

Panel Version: 1.836

Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene has been upgraded from Red to Amber, but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 3:32 p.m. | Last Modified: 1 Feb 2021, 3:32 p.m.

Panel Version: 1.485

Created: 1 Feb 2021, 3:32 p.m.
Last Modified: 1 Feb 2021, 3:32 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Congenital disorders of glycosylation; Skeletal dysplasia

Additional comment: Originally demoted to Red due to phenotype being recorded as immunodeficiency. However, 2 case reports (4 children from 3 unrelated families) where immunodeficiency was combined with skeletal dysplasia similar to desbuquois dysplasia (short limbs detected prenatally in at least 2 of the cases). Two sibs from one family also had horseshoe kidney and gut malformations. PMID: 28543917; PMID: 24931394
Created: 28 Jan 2021, 4:29 p.m. | Last Modified: 28 Jan 2021, 4:29 p.m.

Panel Version: 1.209

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 23

Publications

PMID: 28543917
PMID: 24931394

Created: 28 Jan 2021, 4:29 p.m.
Last Modified: 28 Jan 2021, 4:29 p.m.
Panel version: 1.209

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PGM3 gene rating from Green to Red.
Created: 29 Apr 2019, 12:28 p.m.

DDG2P rating in original PAGE list: Confirmed for IMMUNODEFICIENCY 23
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.222

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
PAGE DD-Gene2Phenotype

Phenotypes

Immunodeficiency 23, OMIM:615816
PGM3-CDG, MONDO:0014353

OMIM

172100

Clinvar variants

Variants in PGM3

Penetrance

None

Publications

Panels with this gene