BHLHA9

Chr 17AR

basic helix-loop-helix family member a9

Also known as: BHLHF42, CCSPD

NCBI Gene: 727857 ENSG00000205899 UniProt: Q7RTU4 OMIM: 615416

This transcription factor regulates gene expression during limb development and morphogenesis. Mutations cause autosomal recessive syndactyly with mesoaxial synostotic features and phalangeal reduction, as well as complex camptosynpolydactyly. The gene shows tolerance to loss-of-function variants (LOEUF 1.9), consistent with recessive inheritance where both copies must be affected to cause disease.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

DNmechanismARLOEUF 1.892 OMIM phenotypes

Clinical Summary— BHLHA9

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.

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