PIGH

Chr 14AR

phosphatidylinositol glycan anchor biosynthesis class H

Also known as: GPI-H

NCBI Gene: 5283ENSG00000100564UniProt: Q14442OMIM: 600154

This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Glycosylphosphatidylinositol biosynthesis defect 17MIM #618010
AR

Clinical highlights

Gene-disease validity (ClinGen)
glycosylphosphatidylinositol biosynthesis defect 17 · ARLimitednot for standalone diagnostic reporting
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.87
LOEUF
LOF
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.87LOEUF
pLI 0.231
Z-score 1.81
OE 0.28 (0.11–0.87)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.95Z-score
OE missense 0.73 (0.60–0.89)
69 obs / 95.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.28 (0.11–0.87)
0≤0.351.4
Missense OE?0.73 (0.60–0.89)
0≤0.61.4
Synonymous OE?0.65
0≤1.21.6
LoF obs/exp: 2 / 7.3Missense obs/exp: 69 / 95.0Syn Z: 1.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PIGH · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients