Skeletal dysplasia
Gene: BHLHA9
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 LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432
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: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reportedCreated: 27 Jul 2016, 2:07 p.m.
Comment on phenotypes: One variant reported in Camptosynpolydactyly, complex 607539Created: 27 Jul 2016, 2:06 p.m.
Tier 2Created: 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
Added phenotypes Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432 for gene: BHLHA9
Source NHS GMS was added to BHLHA9. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for BHLHA9 were set to Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432
Phenotypes for BHLHA9 were set to Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432
Mode of inheritance for BHLHA9 was changed to BIALLELIC, autosomal or pseudoautosomal
BHLHA9 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
BHLHA9 was created by sleigh
BHLHA9 was added to Unexplained skeletal dysplasiapanel. Sources: