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Fetal anomalies

Gene: HOXD12

Amber List (moderate evidence)

HOXD12 (homeobox D12)
EnsemblGeneIds (GRCh38): ENSG00000170178
EnsemblGeneIds (GRCh37): ENSG00000170178
OMIM: 142988, Gene2Phenotype
HOXD12 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Identified as a candidate gene in a large cohort due to enrichment of rare variants.


PMID: 38663984
Around 9 individuals from 4 unrelated families have been reported with clubfoot and the variants were shown to segregate. Cohort of over 1000 individuals, with several novel candidates identified.

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: Literature
Created: 2 May 2024, 4:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Clubfoot (non-syndromic) MONDO:0007342

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Clubfoot (non-syndromic) MONDO:0007342
OMIM
142988
Clinvar variants
Variants in HOXD12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hoxd12 has been classified as Amber List (Moderate Evidence).

2 May 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hoxd12 has been classified as Amber List (Moderate Evidence).

2 May 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HOXD12 was added gene: HOXD12 was added to Fetal anomalies. Sources: Literature 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 Review for gene: HOXD12 was set to AMBER