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Intellectual disability

Gene: PLPBP

Green List (high evidence)

PLPBP (pyridoxal phosphate binding protein)
EnsemblGeneIds (GRCh38): ENSG00000147471
EnsemblGeneIds (GRCh37): ENSG00000147471
OMIM: 604436, Gene2Phenotype
PLPBP is in 5 panels

2 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases as per Louise Daugherty's comments.
Created: 13 Nov 2017, 4:12 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: changed from amber to green due to gene symbol update, green rated PROSC is previous symbol for PLPBP
Created: 7 Nov 2017, 12:10 p.m.
HGNC update complete. PROSC removed from panel, HGNC approved gene symbol PLPBP remains
Created: 7 Nov 2017, 12:08 p.m.
Comment on list classification: delete- although PLPBP is the current approved HGNC gene symbol, the previous symbol PROSC is in our current (Out of date) HGNC version so the ENSG ID can be found and used in Pipeline. PROSC is on this panel with the same review (now Green rated), and that entry is the one that will be updated to the approved gene symbol of PLPBP when panelapp moves to the new version (6th Nov 2017)
Created: 1 Nov 2017, 11:51 a.m.
Previous gene symbol PROSC. Pyridoxal phosphate-responsive epilepsy (PNPO associated) is rare form of autosomal recessive neonatal epileptic encephalopathy. Darin (2016) PMID:27912044: Of 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.
Created: 31 Oct 2017, 11:34 a.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
Phenotypes
  • Epilepsy, early-onset, vitamin B6-dependent, 617290
OMIM
604436
Clinvar variants
Variants in PLPBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PLPBP was added to Intellectual disability panel. Sources: Expert Review Green

29 Nov 2017, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

PLPBP was created by Ellen McDonagh