PGAP1 Chromosome 2
Post-GPI attachment to proteins inositol deacylase 1
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What This Gene Does
The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause an autosomal recessive form of cognitive impairment. [provided by RefSeq, Jul 2017]
Associated Conditions (7)
Hereditary spastic paraplegia
Intellectual disability
autosomal recessive 42
Inborn genetic diseases
PGAP1-related disorder
Cerebral visual impairment and intellectual disability
See cases
Key Variants
RS1038323136
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Intellectual disability, autosomal recessive 42
Health Risk
RS1246230813
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Intellectual disability, autosomal recessive 42
Health Risk
RS1337628147
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Intellectual disability, autosomal recessive 42
Health Risk
RS1376737496
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 42, Inborn genetic diseases
Health Risk
RS138036688
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 42, Hereditary spastic paraplegia
Health Risk
RS142482606
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Intellectual disability, autosomal recessive 42
Health Risk
RS143960563
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 42, Intellectual disability
Health Risk
RS148349860
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 42, Inborn genetic diseases
Health Risk
RS150893861
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 42, Hereditary spastic paraplegia
Health Risk
RS186535521
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia
Health Risk
RS201984003
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 42, Hereditary spastic paraplegia
Health Risk
RS36086547
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 42, Inborn genetic diseases
Health Risk
All Variants (60)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS869025578 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 42, Intellectual disability |
| RS869025579 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 42, Cerebral visual impairment and intellectual disability |
| RS869025580 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 42, Cerebral visual impairment and intellectual disability |
| RS869025581 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 42, Intellectual disability |
| RS1364192556 | Health Risk | Pathogenic/Likely pathogenic | See cases, See cases |
| RS143038880 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 42, Intellectual disability |
| RS1576086299 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 42, Intellectual disability |
| RS587777378 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 42, Intellectual disability |
| RS755341613 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 42, Intellectual disability |
| RS756609752 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 42, Inborn genetic diseases |