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  3. HOXD13
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Fetal anomalies

Gene: HOXD13

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for VACTERL ASSOCIATION, Confirmed for SYNPOLYDACTYLY 1, Confirmed for SYNDACTYLY TYPE 5, Confirmed for BRACHYDACTYLY TYPE E, Confirmed for BRACHYDACTYLY-SYNDACTYLY SYNDROME, and Confirmed for BRACHYDACTYLY TYPE D.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as Uncertain for all disorders.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.134

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SYNPOLYDACTYLY 1
  • BRACHYDACTYLY TYPE D
  • BRACHYDACTYLY-SYNDACTYLY SYNDROME
  • BRACHYDACTYLY TYPE E
  • VACTERL ASSOCIATION
  • SYNDACTYLY TYPE 5
OMIM
142989
Clinvar variants
Variants in HOXD13
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes BRACHYDACTYLY TYPE D for gene: HOXD13

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes BRACHYDACTYLY-SYNDACTYLY SYNDROME for gene: HOXD13

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes BRACHYDACTYLY TYPE E for gene: HOXD13

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes SYNDACTYLY TYPE 5 for gene: HOXD13

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes SYNPOLYDACTYLY 1 for gene: HOXD13

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: HOXD13 was added gene: HOXD13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HOXD13 were set to VACTERL ASSOCIATION