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DDG2P

Gene: PIGU

Amber List (moderate evidence)

PIGU (phosphatidylinositol glycan anchor biosynthesis class U)
EnsemblGeneIds (GRCh38): ENSG00000101464
EnsemblGeneIds (GRCh37): ENSG00000101464
OMIM: 608528, Gene2Phenotype
PIGU is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P, September 2019: Intellectual Disability, Central Nervous System anomalies and Scoliosis. Disease confidence rating in DDG2P: probable. DDG2P mutation consequence: all missense/in frame. DDG2P allelic requirement: monoallelic.
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • Intellectual Disability, Central Nervous System anomalies and Scoliosis
OMIM
608528
Clinvar variants
Variants in PIGU
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

8 Oct 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: PIGU was added gene: PIGU was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIGU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PIGU were set to 31353022 Phenotypes for gene: PIGU were set to Intellectual Disability, Central Nervous System anomalies and Scoliosis Mode of pathogenicity for gene: PIGU was set to Other - please provide details in the comments