Non-syndromic familial congenital anorectal malformations

Gene: HOXD13

Red List (low evidence)

HOXD13 (homeobox D13)
EnsemblGeneIds (GRCh38): ENSG00000128714
EnsemblGeneIds (GRCh37): ENSG00000128714
OMIM: 142989, Gene2Phenotype
HOXD13 is in 8 panels

1 review

Eleanor Williams (Genomics England Curator)

Garcia-Barceló et al 2008 (PMID:19006232) report a heterozygous ‘‘denovo’’ mutation consisting of a 21base-pair deletion (c.163_183del) in the HOXD13 gene in a VACTERL patient presenting with tetralogy of Fallot (heart defect), vesicoureteric reflux, fusion of the distal inter-phalangealjoints of the 4th and 5th toes and anal atresia. Parents and child were screened for variants in SHH, GLI3, and HOXD13. The mutation resulted in the removal of 7 alanines, No polyalanine contraction was found in 192 chromosomes of unrelated andethnically matched healthy individuals. There is the possibility that the HOXD13 mutation identified is only responsible for the digital phenotype and that a second mutation elsewhere in the genome exists that may explain the complexity of the phenotype.
Created: 7 Oct 2018, 11:50 a.m.
HOXD13 has a confirmed association with VACTERL ASSOCIATION in Gene2Phenotype with anal atresia as a phenotype
Created: 4 Aug 2018, 11:12 p.m.


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Other
Clinvar variants
Variants in HOXD13
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: HOXD13 has a confirmed associa

7 Oct 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: HOXD13 were set to

14 Aug 2018, Gel status: 1

Set penetrance

Eleanor Williams (Genomics England Curator)

Phenotypes for gene HOXD13 were set to VACTERL ASSOCIATION

3 Aug 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

HOXD13 was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Other

3 Aug 2018, Gel status: 1


Eleanor Williams (Genomics England Curator)

HOXD13 was created by Eleanor Williams