PIGL Chromosome 17
Phosphatidylinositol glycan anchor biosynthesis class L
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What This Gene Does
This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Phosphatidylinositol glycan anchor biosynthesis|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
17p11.2
Ensembl
ENSG00000108474
Associated Conditions (8)
CHIME syndrome
PIGL-related disorder
Nonpapillary renal cell carcinoma
Inborn genetic diseases
Hyperphosphatasia with intellectual disability syndrome 1
8 conditions
Intellectual disability
Syndromic intellectual disability
Key Variants
RS114176862
Conflicting classifications of pathogenicity
CHIME syndrome, CHIME syndrome
Health Risk
RS114670807
Conflicting classifications of pathogenicity
CHIME syndrome, PIGL-related disorder, Nonpapillary renal cell carcinoma
Health Risk
RS114697377
Conflicting classifications of pathogenicity
CHIME syndrome, CHIME syndrome
Health Risk
RS115958467
Conflicting classifications of pathogenicity
CHIME syndrome, CHIME syndrome
Health Risk
RS138410893
Conflicting classifications of pathogenicity
CHIME syndrome, CHIME syndrome
Health Risk
RS140211194
Conflicting classifications of pathogenicity
CHIME syndrome, CHIME syndrome
Health Risk
RS146164310
Conflicting classifications of pathogenicity
CHIME syndrome, CHIME syndrome
Health Risk
RS149094276
Conflicting classifications of pathogenicity
CHIME syndrome, CHIME syndrome
Health Risk
RS370082158
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS779205636
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1064794861
Likely pathogenic
Health Risk
RS1064795400
Likely pathogenic
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114176862 | Health Risk | Conflicting classifications of pathogenicity | CHIME syndrome, CHIME syndrome |
| RS114670807 | Health Risk | Conflicting classifications of pathogenicity | CHIME syndrome, PIGL-related disorder, Nonpapillary renal cell carcinoma |
| RS114697377 | Health Risk | Conflicting classifications of pathogenicity | CHIME syndrome, CHIME syndrome |
| RS115958467 | Health Risk | Conflicting classifications of pathogenicity | CHIME syndrome, CHIME syndrome |
| RS138410893 | Health Risk | Conflicting classifications of pathogenicity | CHIME syndrome, CHIME syndrome |
| RS140211194 | Health Risk | Conflicting classifications of pathogenicity | CHIME syndrome, CHIME syndrome |
| RS146164310 | Health Risk | Conflicting classifications of pathogenicity | CHIME syndrome, CHIME syndrome |
| RS149094276 | Health Risk | Conflicting classifications of pathogenicity | CHIME syndrome, CHIME syndrome |
| RS370082158 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779205636 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1064794861 | Health Risk | Likely pathogenic | — |
| RS1064795400 | Health Risk | Likely pathogenic | — |
| RS2092587080 | Health Risk | Likely pathogenic | — |
| RS2142610073 | Health Risk | Likely pathogenic | CHIME syndrome, CHIME syndrome |
| RS2142864883 | Health Risk | Likely pathogenic | CHIME syndrome, CHIME syndrome |
| RS768198327 | Health Risk | Likely pathogenic | CHIME syndrome, CHIME syndrome |
| RS773591135 | Health Risk | Likely pathogenic | CHIME syndrome, Hyperphosphatasia with intellectual disability syndrome 1, PIGL-related disorder |
| RS139004722 | Health Risk | Pathogenic | CHIME syndrome, CHIME syndrome |
| RS145303331 | Health Risk | Pathogenic | CHIME syndrome, 8 conditions, Inborn genetic diseases |
| RS2552138236 | Health Risk | Pathogenic | — |
| RS369230457 | Health Risk | Pathogenic | — |
| RS758633805 | Health Risk | Pathogenic | CHIME syndrome, CHIME syndrome |
| RS770084126 | Health Risk | Pathogenic | CHIME syndrome, Syndromic intellectual disability, CHIME syndrome |
| RS886039691 | Health Risk | Pathogenic | — |
| RS967814478 | Health Risk | Pathogenic/Likely pathogenic | — |