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Intellectual disability syndromic and non-syndromic

Gene: PIGU

Green List (high evidence)

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

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

5 patients from 3 unrelated families, with homozygous missense mutations in the PIGU gene. All individuals presented with global DD, severe-to-profound ID, muscular hypotonia, seizures, brain anomalies, scoliosis, and mild facial dysmorphism. Flow cytometric analysis of patient granulocytes showed a characteristic pattern, with reduced cell surface expression of CD16 and CD24. In addition, patient B cells showed increased expression of free GPI anchors determined by a specific antibody, T5. The findings suggested that PIGU mutations reduce the function of the GPI transamidase complex, leading to accumulation of free GPI anchors on the cell surface.
Sources: Literature
Created: 11 Dec 2019, 11:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 21; OMIM #618590

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 21
  • OMIM #618590
OMIM
608528
Clinvar variants
Variants in PIGU
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

11 Dec 2019, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: PIGU was added gene: PIGU was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: PIGU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGU were set to PMID: 31353022 Phenotypes for gene: PIGU were set to Glycosylphosphatidylinositol biosynthesis defect 21; OMIM #618590 Review for gene: PIGU was set to GREEN