Polydactyly
Gene: BHLHA9

BHLHA9 (basic helix-loop-helix family member a9)
EnsemblGeneIds (GRCh38): ENSG00000205899
EnsemblGeneIds (GRCh37): ENSG00000205899
OMIM: 615416, Gene2Phenotype
BHLHA9 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) represents a distinctive combination of clinical features that includes 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. At least 10 unrelated families reported.
Created: 9 Nov 2021, 4:54 a.m. | Last Modified: 9 Nov 2021, 4:54 a.m.

Panel Version: 0.240

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432

Publications

Created: 9 Nov 2021, 4:54 a.m.
Last Modified: 9 Nov 2021, 4:54 a.m.
Panel version: 0.240

Anand Vasudevan (Royal Women's Hospital)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 21 Jul 2020, 2:53 a.m.
Last Modified: 21 Jul 2020, 2:53 a.m.
Panel version: 0.36

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432

OMIM

615416

Clinvar variants

Variants in BHLHA9

Penetrance

None

Publications

Panels with this gene