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Newborns main panel

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

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 36324377 - 3 cases and review of 51 previous cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Vitamin B6-dependent epilepsy
OMIM
604436
Clinvar variants
Variants in PLPBP
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Vitamin B6-dependent epilepsy for gene: PLPBP

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PLPBP. Added phenotypes Vitamin B6-dependent epilepsy for gene: PLPBP Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PLPBP. Added phenotypes Vitamin B6-dependent epilepsy for gene: PLPBP Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Vitamin B6-dependent epilepsy for gene: PLPBP

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: PLPBP was added gene: PLPBP was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal