Early onset or syndromic epilepsy
Gene: PROSCThis gene should be called PLPBPCreated: 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 casesCreated: 4 Dec 2018, 9:52 p.m.
Comment on list classification: > 3 cases reportedCreated: 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.
HGNC approved name is PLPBPCreated: 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
Tag curated_removed tag was added to gene: PROSC.
Gene: prosc has been removed from the panel.
Zornitza Stark: HGNC approved name is PLPBP
Gene: prosc has been classified as Green List (High Evidence).
Phenotypes for gene: PROSC were changed from to Epilepsy, early-onset, vitamin B6-dependent 617290
Publications for gene: PROSC were set to
Mode of inheritance for gene: PROSC was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: prosc has been classified as Green List (High Evidence).
Tag new-gene-name tag was added to gene: PROSC.
Expert Review Amber was added to PROSC. Panel: Genetic Epilepsy Syndromes
PROSC was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
PROSC was created by Sarah Leigh