Early onset or syndromic epilepsy

Gene: PROSC

This gene should be called PLPBP

Created: 29 Mar 2019, 5:19 p.m.

Comment on list classification: Demoting from Green to Grey, as this gene is represented by PLPBP in this panel: https://panelapp.genomicsengland.co.uk/panels/402/gene/PLPBP/.

Created: 18 Dec 2018, 12:20 p.m.

Comment when marking as ready: > 3 cases

Created: 4 Dec 2018, 9:52 p.m.

Comment on list classification: > 3 cases reported

Created: 4 Dec 2018, 9:50 p.m.

Associated with Epilepsy, early-onset, vitamin B6-dependent in OMIM and Gene2Phenotype (probable).

PMID: 27912044 (Darin et al, 2016): 7 patients from 5 unrelated families (4 different populations) with early-onset vitamin B6-dependent epilepsy were identified with homozygous or compound heterozygous mutations in the PROSC gene. Inheritance pattern consistent with biallelic pattern of inheritance. Seizures observed in all patients. Functional analyses of fibroblasts from 2 patients showed decreased or no PROSC expression.

Created: 4 Dec 2018, 9:48 p.m.

Green List (high evidence)

HGNC approved name is PLPBP

Created: 19 Aug 2018, 11:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, early-onset, vitamin B6-dependent, MIM#617290

Variants in this GENE are reported as part of current diagnostic practice