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DDG2P

Gene: PIGB

Green List (high evidence)

PIGB (phosphatidylinositol glycan anchor biosynthesis class B)
EnsemblGeneIds (GRCh38): ENSG00000069943
EnsemblGeneIds (GRCh37): ENSG00000069943
OMIM: 604122, Gene2Phenotype
PIGB is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P, September 2019: Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality. Disease confidence rating in DDG2P: confirmed. DDG2P mutation consequence: loss of function. DDG2P allelic requirement: biallelic.
Created: 8 Oct 2019, 3:13 p.m. | Last Modified: 8 Oct 2019, 3:13 p.m.
Panel Version: 1.130

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality
OMIM
604122
Clinvar variants
Variants in PIGB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Oct 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: PIGB was added gene: PIGB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGB were set to 31256876 Phenotypes for gene: PIGB were set to Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality