Skeletal dysplasia
Gene: BHLHA9

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

1 review

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, 4:52 a.m. | Last Modified: 9 Nov 2021, 4:52 a.m.

Panel Version: 0.9667

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 9 Nov 2021, 4:52 a.m.
Last Modified: 9 Nov 2021, 4:52 a.m.
Panel version: Imported from Mendeliome panel version 0.9667

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Expert list
NHS GMS
Victorian Clinical Genetics Services

Phenotypes

Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432

OMIM

615416

Clinvar variants

Variants in BHLHA9

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BHLHA9 was added gene: BHLHA9 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green Mode of inheritance for gene: BHLHA9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BHLHA9 were set to Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432

Skeletal dysplasia Gene: BHLHA9