Polydactyly

Gene: BHLHA9

Green List (high evidence)

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

Anand Vasudevan (Royal Women's Hospital)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

History Filter Activity

9 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bhlha9 has been classified as Green List (High Evidence).

9 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BHLHA9 were changed from to Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432

9 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BHLHA9 were set to

21 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BHLHA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BHLHA9 was added gene: BHLHA9 was added to Polydactyly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BHLHA9 was set to Unknown