Genetic Epilepsy

Gene: PGM3

I don't know

Additional patients reported in PMID: 24589341 (2014):
Reporting on two unrelated families:
1. 5/6 siblings reported with an autosomal recessive immunodeficiency-vasculitis-myoclonus syndrome. Compound heterozygous variants (maternal p.Glu529Gln; paternal p.Leu480Serfs*10) completely segregated with disease. Only 1 sibling presented with seizures.
2. 2/2 siblings and 1 distant cousin affected with similar phenotype to family 1, all with consanguineous parents. Homozygous variant (p.Asp325Glu) present in all individuals and carrier status in unaffected parents.

Created: 21 Dec 2023, 3:34 a.m. | Last Modified: 21 Dec 2023, 3:34 a.m.

Panel Version: 0.2094

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy

Publications

• 24589341

I don't know

Note bi-allelic variants are associated with CDG.

Created: 11 Oct 2021, 5:42 a.m. | Last Modified: 11 Oct 2021, 5:42 a.m.

Panel Version: 0.1288

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy

I don't know

4x unrelated families including 2x de novo +2x inherited from unaffected parents. Hence reduced penetrance suggested
3x missense, 1x protein truncating
both missense variants inherited from unaffected parents classified as VUS by ACMG guidelines

no functional studies done
Sources: Literature

Created: 11 Oct 2021, 1:51 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Idiopathic focal epilepsy

Publications

• 33193641