Skeletal dysplasia
Gene: HOXD13
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 LesterCreated: 6 Mar 2019, 11:44 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
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: HOXD13; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.Created: 7 Jul 2016, 9:03 a.m.
Comment on list classification: Tier 2 gene for skeletal dysplasia (Ana Beleza)Created: 7 Jul 2016, 8:59 a.m.
Tier 2Created: 17 Jun 2016, 8:04 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
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Syndactyly, type V 186300; Brachydactyly-syndactyly syndrome 610713; Brachydactyly, type E 113300; Synpolydactyly 1 186000; Brachydactyly, type D 113200 for gene: HOXD13
Source NHS GMS was added to HOXD13. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for HOXD13 were set to Brachydactyly-syndactyly syndrome 610713; Brachydactyly, type D 113200; Brachydactyly, type E 113300; Syndactyly, type V 186300 ; Synpolydactyly 1 186000
Publications for HOXD13 were set to 9758628; 12649808; 17236141
This gene has been classified as Green List (High Evidence).
HOXD13 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
HOXD13 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
HOXD13 was created by anabeleza