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Genetic epilepsy syndromes

Gene: PROSC

No list

PROSC (proline synthetase co-transcribed (bacterial homolog))
EnsemblGeneIds (GRCh38): ENSG00000147471
EnsemblGeneIds (GRCh37): ENSG00000147471
OMIM: 604436, Gene2Phenotype
PROSC is in 2 panels

4 reviews

Chris Buxton (North Bristol NHS Trust)

This gene should be called PLPBP
Created: 29 Mar 2019, 5:19 p.m.

Ellen McDonagh (Genomics England Curator)

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.

Eleanor Williams (Genomics England Curator)

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.

Zornitza Stark (Australian Genomics)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, early-onset, vitamin B6-dependent 617290
Tags
new-gene-name
OMIM
604436
Clinvar variants
Variants in PROSC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: prosc has been removed from the panel.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: HGNC approved name is PLPBP

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

4 Dec 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PROSC were changed from to Epilepsy, early-onset, vitamin B6-dependent 617290

4 Dec 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: PROSC were set to

4 Dec 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: PROSC was changed from to BIALLELIC, autosomal or pseudoautosomal

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

4 Dec 2018, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag new-gene-name tag was added to gene: PROSC.

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to PROSC. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PROSC was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PROSC was created by Sarah Leigh