Limb disordersGene: BHLHA9
Comment on mode of inheritance: Changing MOI back to biallelic only, as the duplication of this gene in SPLIT HAND AND FOOT MALFORMATION seems to be more of a susceptibility factor.
Created: 9 Dec 2018, 11:28 a.m.
In Gene2Phenotype this gene is also associated with SPLIT HAND AND FOOT MALFORMATION where there is a duplication of the gene. Mode of Inheritance is monoalleleic. PMID: 23790188 - by quantitive PCR a BHLHA9 duplication in 13 unrelated probands by qPCR, among 72 cases of ectrodactyly and/or long‐bone deficiency studied. Pedigrees often showed non‐penetrant individuals. 19 obligate carriers of the BHLHA9 duplication were asymptomatic (9 females and 10 males).
PMID: 22147889 report detailed analysis of 17 families with microduplicatiosn on duplication at 17p13.3. The minimal critical region encompasses the single gene, BHLHA9. Using quantitative real-time PCR to study affected and non-affected SHFLD family members they identified a high degree of non-penetrance. In those with duplications. 42 were affected but there were 40 unaffected carriers. More males (30/42) were affected than females (12/42). The authors suggest that this shows a non-Mendelian inheritance pattern with reduced recurrence risk and many mothers who are healthy carriers.
Created: 9 Sep 2018, 9:09 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reported
Created: 27 Jul 2016, 2:07 p.m.
Comment on phenotypes: One variant reported in Camptosynpolydactyly, complex 607539
Created: 27 Jul 2016, 2:06 p.m.
Created: 17 Jun 2016, 8:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432
Variants in this GENE are reported as part of current diagnostic practice
Ana Beleza: Tier 2
Publications for gene: BHLHA9 were set to
Mode of inheritance for gene: BHLHA9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: BHLHA9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to BHLHA9. Panel: Limb disorders Phenotypes for gene BHLHA9 were set to Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432, Polydactyly
Phenotypes for BHLHA9 were set to Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432
Expert Review Green was added to BHLHA9. Panel: Limb disorders Expert list was added to BHLHA9. Panel: Limb disorders Model of inheritance for gene BHLHA9 was set to BIALLELIC, autosomal or pseudoautosomal
London South East RGC GSTT was added to BHLHA9. Panel: Limb disorders
BHLHA9 was added to Limb disorders panel. Sources: Viapath
BHLHA9 was created by Ellen McDonagh