BHLHA9

Highest pathogenic variant AF is 0.00012874373

Gene type

protein_coding

Transcript type

protein_coding

Transcript

ENST00000391429

Coding exons

1

Length

902

Individuals with no LoFs

0

Homozygous LoFs

0

Heterozygous LoFs

0

Defined

0

p

0.00

Function

FUNCTION: Transcription factor, which play a role in limb development. Is an essential player in the regulatory network governing transcription of genes implicated in limb morphogenesis. {ECO:0000269|PubMed:22147889, ECO:0000269|PubMed:25466284}.;

Disease

DISEASE: Split-hand/foot malformation with long bone deficiency 3 (SHFLD3) [MIM:612576]: A disease characterized by the association of split-hand/foot malformation with long bone deficiency involving the tibia and fibula. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod. Phenotypic expression is extremely variable between and within families, and even between limbs of a single patient, ranging from syndactyly and oligodactyly to the most severe monodactyly with only a single phalanx. Limb features include median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. {ECO:0000269|PubMed:22147889}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry. A copy number variation (CNV) resulting in BHLHA9 duplications is a necessary but not sufficient susceptibility factor for Split-hand/foot malformation with long bone deficiency, a highly variable phenotype with reduced penetrance, particularly in females (PubMed:22147889). {ECO:0000269|PubMed:22147889}.; DISEASE: Syndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD) [MIM:609432]: An autosomal recessive, non- syndromic digit anomaly characterized by mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes. {ECO:0000269|PubMed:25466284}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Camptosynpolydactyly, complex (CCSPD) [MIM:607539]: An autosomal recessive disorder characterized by hand and foot deformities consisting of polydactyly with digits arising from the dorsum of hands, syn- and camptodactyly of some fingers, soft tissue syndactyly of first and second toes, and dysplastic nails. {ECO:0000269|PubMed:27041388}. Note=The disease may be caused by mutations affecting the gene represented in this entry.;