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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. HOXD13
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GMS Musculoskeletal specialist test group Skeletal dysplasia

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Mesomelic and rhizo-mesomelic dysplasias gp of SD, brachydactylies (without extraskeletal manifestations) gp of SD, polydactyly-syndactyly-triphalangism SD gp. Variants include polyAla expansion - several cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cranioosteoarthropathy 259100
  • Digital clubbing, isolated congenital 119900
  • Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100
OMIM
142989
Clinvar variants
Variants in HOXD13
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: HOXD13 was added gene: HOXD13 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: HOXD13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HOXD13 were set to Cranioosteoarthropathy 259100; Digital clubbing, isolated congenital 119900; Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100