RFX7 Chromosome 15
Regulatory factor X7
Upload your DNA to see your personal genotypes for variants in RFX7.
What This Gene Does
RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009]
Gene Info
Gene Group
Regulatory factor X family
Locus Type
gene with protein product
Location
15q21.3
Ensembl
ENSG00000181827
Associated Conditions (7)
Neurodevelopmental disorder
Inborn genetic diseases
RFX7-related disorder
Intellectual developmental disorder
autosomal dominant 71
with behavioral abnormalities
See cases
Key Variants
RS766009038
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2504988812
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2504989046
Likely pathogenic
Health Risk
RS2504989200
Likely pathogenic
RFX7-related disorder, RFX7-related disorder
Health Risk
RS2504987137
Pathogenic
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
Health Risk
RS2504987254
Pathogenic
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
Health Risk
RS750801787
Pathogenic
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
Health Risk
RS764917109
Pathogenic
Health Risk
RS2504987146
Pathogenic/Likely pathogenic
See cases, Intellectual developmental disorder, autosomal dominant 71
Health Risk
RS749745135
Pathogenic/Likely pathogenic
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS766009038 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2504988812 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2504989046 | Health Risk | Likely pathogenic | — |
| RS2504989200 | Health Risk | Likely pathogenic | RFX7-related disorder, RFX7-related disorder |
| RS2504987137 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities |
| RS2504987254 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities |
| RS750801787 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities |
| RS764917109 | Health Risk | Pathogenic | — |
| RS2504987146 | Health Risk | Pathogenic/Likely pathogenic | See cases, Intellectual developmental disorder, autosomal dominant 71 |
| RS749745135 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities |