BHLHA9 Chromosome 17
Basic helix-loop-helix family member a9
Upload your DNA to see your personal genotypes for variants in BHLHA9.
What This Gene Does
This gene is a member of the basic helix-loop-helix family. The encoded protein is a transcription factor involved in limb development. Mutations in this gene have been associated with mesoaxial synostotic syndactyly Malik-Percin type (MSSD). Copy number variation of a locus containing this gene has been linked to a form of split-hand/foot malformation with long bone deficiency (SHFLD3). [provided by RefSeq, Mar 2015]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
17p13.3
Ensembl
ENSG00000205899
Associated Conditions (4)
Inborn genetic diseases
Mesoaxial synostotic syndactyly with phalangeal reduction
Camptosynpolydactyly
complex
Key Variants
RS780663863
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS912059800
Conflicting classifications of pathogenicity
Health Risk
RS672601338
Likely pathogenic
Mesoaxial synostotic syndactyly with phalangeal reduction, Mesoaxial synostotic syndactyly with phalangeal reduction, Mesoaxial synostotic syndactyly with phalangeal reduction
Health Risk
RS886037856
Likely pathogenic
Camptosynpolydactyly, complex, Camptosynpolydactyly
Health Risk
RS672601337
Pathogenic
Mesoaxial synostotic syndactyly with phalangeal reduction, Mesoaxial synostotic syndactyly with phalangeal reduction
Health Risk
RS672601339
Pathogenic
Mesoaxial synostotic syndactyly with phalangeal reduction, Mesoaxial synostotic syndactyly with phalangeal reduction
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS780663863 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS912059800 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS672601338 | Health Risk | Likely pathogenic | Mesoaxial synostotic syndactyly with phalangeal reduction, Mesoaxial synostotic syndactyly with phalangeal reduction, Mesoaxial synostotic syndactyly with phalangeal reduction |
| RS886037856 | Health Risk | Likely pathogenic | Camptosynpolydactyly, complex, Camptosynpolydactyly |
| RS672601337 | Health Risk | Pathogenic | Mesoaxial synostotic syndactyly with phalangeal reduction, Mesoaxial synostotic syndactyly with phalangeal reduction |
| RS672601339 | Health Risk | Pathogenic | Mesoaxial synostotic syndactyly with phalangeal reduction, Mesoaxial synostotic syndactyly with phalangeal reduction |