Epileptic encephalopathy Victorian Clinical Genetics Services
Gene: PLPBP

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

1 review

Ellen McDonagh (Genomics England Curator)

Updated the gene symbol...This was entered as PROSC, which now has the approved symbol PLPBP (same ENSG code).
Created: 18 Dec 2018, 12:22 p.m.

Created: 18 Dec 2018, 12:22 p.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert list
Expert Review Green

OMIM

604436

Clinvar variants

Variants in PLPBP

Penetrance

None

Panels with this gene

History Filter Activity

18 Dec 2018, Gel status: 4

Changed Gene Name

Ellen McDonagh (Genomics England Curator)

PROSC was changed to PLPBP

18 Dec 2018, Gel status: 4

Removed Source, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source Victorian Clinical Genetics Services was removed from PROSC. Source Expert list was added to PROSC. Mode of inheritance for gene PROSC was changed from to BIALLELIC, autosomal or pseudoautosomal

12 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

PROSC was added to Epileptic encephalopathy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services