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DDG2P

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 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for BHLHA9-related mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type are definitive, biallelic_autosomal and dominant negative (PMIDs: 25466284, 29263794, 30107244, 31152918, 31912643, 34272776, 36565049). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00920. The DDG2P confidence category, allelic requirement and molecular mechanism for BHLHA9-related split hand and foot malformation are definitive, monoallelic_autosomal and undetermined (PMIDs: 22147889, 23790188). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02025.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE, OMIM:69432 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:25466284). The DDG2P confidence category for the disease SPLIT HAND AND FOOT MALFORMATION, OMIM:220600 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and increased gene product level (PMIDs: 22147889;23790188).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
BHLHA9-related split hand and foot malformation; MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE, OMIM:69432; BHLHA9-related mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type; SPLIT HAND AND FOOT MALFORMATION, OMIM:220600; OMIM:609432.0; MONDO:0012271; MONDO:0016576

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: dominant negative, increased gene dosage. Multiple MOIs in DD-G2P download: monoallelic and biallelic.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPLIT HAND AND FOOT MALFORMATION 220600
  • MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE 69432
OMIM
615416
Clinvar variants
Variants in BHLHA9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: BHLHA9 was changed from Other to None

4 Oct 2023, Gel status: 3

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene BHLHA9 was changed from Other - please provide details in the comments to Other Publications for gene: BHLHA9 were updated from 23790188; 22147889 to 22147889; 23790188; 25466284

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes SPLIT HAND AND FOOT MALFORMATION 220600 for gene: BHLHA9 Publications for gene BHLHA9 were changed from 25466284 to 23790188; 22147889

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: BHLHA9 was added gene: BHLHA9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BHLHA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: BHLHA9 were set to 25466284 Phenotypes for gene: BHLHA9 were set to MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE 69432 Mode of pathogenicity for gene: BHLHA9 was set to Other - please provide details in the comments