VACTERL-like phenotypes

Gene: HOXD13

Red List (low evidence)

HOXD13 (homeobox D13)
EnsemblGeneIds (GRCh38): ENSG00000128714
EnsemblGeneIds (GRCh37): ENSG00000128714
OMIM: 142989, Gene2Phenotype
HOXD13 is in 7 panels

2 reviews

Muriel Holder (Clinical Genetics, Guy's Hospital)

Red List (low evidence)

Damian Smedley (Genomics England Curator)

Comment on list classification: From OMIM
HOXD13, 21-BP DEL, NT163 [dbSNP:rs587776824] [ClinVar]
This variant, formerly titled VACTERL ASSOCIATION, has been reclassified because its contribution to the phenotype has not been confirmed.
Created: 10 May 2016, 9:02 a.m.

Details

Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Synpolydactyly, type II, 186000
Tags
nucleotide-repeat-expansion
OMIM
142989
Clinvar variants
Variants in HOXD13
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

HOXD13 was added to VACTERL-like phenotypepanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

HOXD13 was added to VACTERL-like phenotypepanel. Sources: Radboud University Medical Center, Nijmegen