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  3. HOXD13
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Hand and foot malformations

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established associations, bi-allelic variants are rare and cause more severe abnormalities.
Created: 5 Oct 2022, 7:15 a.m. | Last Modified: 5 Oct 2022, 7:15 a.m.
Panel Version: 0.65

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200; Syndactyly, type V, MIM# 186300; Synpolydactyly 1, MIM# 186000; Brachydactyly-syndactyly syndrome, MIM# 610713

Publications

Created: 5 Oct 2022, 7:15 a.m.
Last Modified: 5 Oct 2022, 7:15 a.m.
Panel version: 0.65

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200
  • Syndactyly, type V, MIM# 186300
  • Synpolydactyly 1, MIM# 186000
  • Brachydactyly-syndactyly syndrome, MIM# 610713
OMIM
142989
Clinvar variants
Variants in HOXD13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hoxd13 has been classified as Green List (High Evidence).

5 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HOXD13 were changed from brachydactyly to Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200; Syndactyly, type V, MIM# 186300; Synpolydactyly 1, MIM# 186000; Brachydactyly-syndactyly syndrome, MIM# 610713

5 Oct 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HOXD13 were set to 12649808; 17236141

5 Oct 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HOXD13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

5 Oct 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HOXD13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

5 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hoxd13 has been classified as Green List (High Evidence).

26 Sep 2022, Gel status: 1

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

Sue White (Victorian Clinical Genetics Services)

gene: HOXD13 was added gene: HOXD13 was added to Hand and foot malformations. Sources: Literature Mode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HOXD13 were set to 12649808; 17236141 Phenotypes for gene: HOXD13 were set to brachydactyly