Skeletal dysplasia

Gene: BHLHA9

Green List (high evidence)

Listed in Limb hypoplasia-reduction defects gp of SD, and polydactyly-syndactyly-triphalangism SD gp. AD. Six families reported for 609432. A further family reported with complex camptosyndactyly.; Review on behalf of Tracy Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: BHLHA9; Initial rating suggestion: green

Created: 6 Mar 2019, 11:36 a.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.

Green List (high evidence)

Tier 2

Created: 17 Jun 2016, 8:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432

Variants in this GENE are reported as part of current diagnostic practice