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Limb disorders

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

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on mode of inheritance: Changing MOI back to biallelic only, as the duplication of this gene in SPLIT HAND AND FOOT MALFORMATION seems to be more of a susceptibility factor.
Created: 9 Dec 2018, 11:28 a.m.
In Gene2Phenotype this gene is also associated with SPLIT HAND AND FOOT MALFORMATION where there is a duplication of the gene. Mode of Inheritance is monoalleleic. PMID: 23790188 - by quantitive PCR a BHLHA9 duplication in 13 unrelated probands by qPCR, among 72 cases of ectrodactyly and/or long‐bone deficiency studied. Pedigrees often showed non‐penetrant individuals. 19 obligate carriers of the BHLHA9 duplication were asymptomatic (9 females and 10 males).
PMID: 22147889 report detailed analysis of 17 families with microduplicatiosn on duplication at 17p13.3. The minimal critical region encompasses the single gene, BHLHA9. Using quantitative real-time PCR to study affected and non-affected SHFLD family members they identified a high degree of non-penetrance. In those with duplications. 42 were affected but there were 40 unaffected carriers. More males (30/42) were affected than females (12/42). The authors suggest that this shows a non-Mendelian inheritance pattern with reduced recurrence risk and many mothers who are healthy carriers.
Created: 9 Sep 2018, 9:09 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reported
Created: 27 Jul 2016, 2:07 p.m.
Comment on phenotypes: One variant reported in Camptosynpolydactyly, complex 607539
Created: 27 Jul 2016, 2:06 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert list
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432
  • Polydactyly
OMIM
615416
Clinvar variants
Variants in BHLHA9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

9 Dec 2018, Gel status: 4

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: BHLHA9 were set to

9 Dec 2018, Gel status: 4

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: BHLHA9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

4 Dec 2018, Gel status: 4

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: BHLHA9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to BHLHA9. Panel: Limb disorders Phenotypes for gene BHLHA9 were set to Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432, Polydactyly

5 Apr 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for BHLHA9 were set to Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432

5 Apr 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to BHLHA9. Panel: Limb disorders Expert list was added to BHLHA9. Panel: Limb disorders Model of inheritance for gene BHLHA9 was set to BIALLELIC, autosomal or pseudoautosomal

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to BHLHA9. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BHLHA9 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

BHLHA9 was created by Ellen McDonagh