Hand and foot malformations
Gene: HOXD12EnsemblGeneIds (GRCh38): ENSG00000170178
EnsemblGeneIds (GRCh37): ENSG00000170178
OMIM: 142988, Gene2Phenotype
HOXD12 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Identified as a candidate gene in a large cohort due to enrichment of rare variants.Created: 2 May 2024, 4:20 a.m. | Last Modified: 2 May 2024, 4:20 a.m.
Panel Version: 0.73
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Clubfoot (non-syndromic) MONDO:0007342
Sangavi Sivagnanasundram (Melbourne Health)
Novel gene-disease association with non-syndromic clubfoot.
10 variants in HOXD12 have been reported in individuals with clubfoot (variants are predominantly missense variants however one rare deletion has been reported).
PMID: 38663984
Around 9 individuals from 4 unrelated families have been reported with clubfoot and the variants were shown to segregate.
N-terminal region and C-terminal homeobox domain of HOXD12 are known to be clusters for pathogenic variants related to clubfoot.
Loss of function variants are less likely to contribute to clubfoot pathogenesis therefore mechanism of disease is suggested as dominant negative but is not confirmed.
Sources: OtherCreated: 1 May 2024, 10:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Clubfoot (non-syndromic) MONDO:0007342
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Clubfoot (non-syndromic) MONDO:0007342
- OMIM
- 142988
- Clinvar variants
- Variants in HOXD12
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hoxd12 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hoxd12 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Sangavi Sivagnanasundram (Melbourne Health)gene: HOXD12 was added gene: HOXD12 was added to Hand and foot malformations. Sources: Other Mode of inheritance for gene: HOXD12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HOXD12 were set to 38663984 Phenotypes for gene: HOXD12 were set to Clubfoot (non-syndromic) MONDO:0007342 Mode of pathogenicity for gene: HOXD12 was set to Other Review for gene: HOXD12 was set to GREEN