Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: PLPBP

Green List (high evidence)

PLPBP (pyridoxal phosphate binding protein)
EnsemblGeneIds (GRCh38): ENSG00000147471
EnsemblGeneIds (GRCh37): ENSG00000147471
OMIM: 604436, Gene2Phenotype
PLPBP is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 20 individuals reported. The most severe phenotypes were associated with variants leading to loss of function of PLPBP or significantly affecting protein stability/PLP-binding.
Created: 21 Apr 2020, 3:04 a.m. | Last Modified: 21 Apr 2020, 3:04 a.m.
Panel Version: 0.2570

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290
OMIM
604436
Clinvar variants
Variants in PLPBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLPBP were set to

21 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLPBP was added gene: PLPBP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PLPBP was set to Unknown