IQCE Chromosome 7
IQ motif containing E
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What This Gene Does
Involved in limb morphogenesis. Predicted to be located in cytoplasmic side of plasma membrane. Predicted to be part of plasma membrane protein complex. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (10)
IQCE-related disorder
Inborn genetic diseases
Polydactyly
postaxial
type a7
Brachydactyly
Syndactyly
type A1
Retinal degeneration
Familial pancreatic carcinoma
Key Variants
RS182671518
Conflicting classifications of pathogenicity
IQCE-related disorder, IQCE-related disorder
Health Risk
RS188642162
Conflicting classifications of pathogenicity
Health Risk
RS753670589
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS765134641
Conflicting classifications of pathogenicity
Polydactyly, postaxial, type a7
Health Risk
RS773701437
Conflicting classifications of pathogenicity
Brachydactyly, Syndactyly, Polydactyly
Health Risk
RS1298717770
Likely pathogenic
Polydactyly, postaxial, type a7
Health Risk
RS759821884
Likely pathogenic
Polydactyly, postaxial, type a7
Health Risk
RS755938967
Pathogenic
Polydactyly, postaxial, type a7
Health Risk
RS760694987
Pathogenic
Polydactyly, postaxial, type A1
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS182671518 | Health Risk | Conflicting classifications of pathogenicity | IQCE-related disorder, IQCE-related disorder |
| RS188642162 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753670589 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765134641 | Health Risk | Conflicting classifications of pathogenicity | Polydactyly, postaxial, type a7 |
| RS773701437 | Health Risk | Conflicting classifications of pathogenicity | Brachydactyly, Syndactyly, Polydactyly |
| RS1298717770 | Health Risk | Likely pathogenic | Polydactyly, postaxial, type a7 |
| RS759821884 | Health Risk | Likely pathogenic | Polydactyly, postaxial, type a7 |
| RS755938967 | Health Risk | Pathogenic | Polydactyly, postaxial, type a7 |
| RS760694987 | Health Risk | Pathogenic | Polydactyly, postaxial, type A1 |