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Epileptic encephalopathy

Gene: PLPBP

Green List (high evidence)

PLPBP (pyridoxal phosphate binding protein)
EnsemblGeneIds (GRCh38): ENSG00000147471
EnsemblGeneIds (GRCh37): ENSG00000147471
OMIM: 604436, Gene2Phenotype
PLPBP is in 4 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

New gene name tag added PROSC should be approved HGNC gene symbol PLPBP. Pyridoxal phosphate-responsive epilepsy (PNPO associated) is rare form of autosomal recessive neonatal epileptic encephalopathy. Darin et al. (2016) PMID:27912044 reported that the five individuals with PROSC mutations all affected infants presented with seizures on day 1 of life, apart from subject 7, who presented at 1 month of age. Clinical characteristics of all five individuals all were noted as showing learning difficulties in addition to three with motor delay and four with speech delay. There are sufficient cases, and the phenotype, although complex, is relevant to this panel. On review with the internal clinical team it was thought that although vitamin B 6 abnormalities are currently in the exclusion criteria for the Epileptic encephalopathy panel, as it is treatable and has a good phenotypic fit it should still be included.
31 Oct 2017, 3:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, early-onset, vitamin B6-dependent, 617290
Tags
treatable
OMIM
604436
Clinvar variants
Variants in PLPBP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Nov 2017, Gel status: 4

Changed Gene Name

Louise Daugherty (Genomics England Curator)

PROSC was changed to PLPBP

7 Nov 2017, Gel status: 4

Removed Tag

Louise Daugherty (Genomics England Curator)

new-gene-name was removed from PROSC. Panel: Epileptic encephalopathy

31 Oct 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Oct 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

PROSC was added to Epileptic encephalopathypanel. Sources: Literature

31 Oct 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PROSC was created by LouiseD