GPATCH11 Chromosome 2
G-patch domain containing 11
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What This Gene Does
Predicted to enable nucleic acid binding activity. Located in kinetochore. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
G-patch domain containing
Locus Type
gene with protein product
Location
2p22.2
Ensembl
ENSG00000152133
Associated Conditions (1)
Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia
Key Variants
RS1407579456
Pathogenic
Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia, Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia
Health Risk
RS2466837412
Pathogenic
Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia, Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia
Health Risk
RS574837250
Pathogenic
Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia, Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia
Health Risk
RS770171252
Pathogenic
Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia, Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1407579456 | Health Risk | Pathogenic | Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia, Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia |
| RS2466837412 | Health Risk | Pathogenic | Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia, Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia |
| RS574837250 | Health Risk | Pathogenic | Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia, Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia |
| RS770171252 | Health Risk | Pathogenic | Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia, Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia |