PanelApp (staging)
  1. Genes and Genomic Entities
  2. HOXD13

HOXD13

homeobox D13
OMIM: 142989, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green HOXD13 in Mendeliome


Version 1.2302

1 review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200
  • Syndactyly, type V, MIM# 186300
  • Synpolydactyly 1, MIM# 186000
  • Brachydactyly-syndactyly syndrome, MIM# 610713

Green HOXD13 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.281

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Synpolydactyly 1, MIM# 186000

    Green HOXD13 in Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy


    Level 2: Endocrine disorders
    Version 0.13

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green HOXD13 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.302

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • UKGTN
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Brachydactyly, type E 113300
    • Brachydactyly, type D 113200
    • Syndactyly, type V 186300
    • Synpolydactyly 1 186000
    • Brachydactyly-syndactyly syndrome 610713

    Green HOXD13 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.76

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 review 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

    Green HOXD13 in Fetal anomalies


    Version 1.313

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Brachydactyly, type D MIM#113200
    • Brachydactyly, type E MIM#113300
    • Syndactyly, type V MIM#186300
    • Synpolydactyly 1 MIM#186000

    Green SPD1 STR in Repeat Disorders


    Version 0.168

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Synpolydactyly 1 MIM#186000
    Tags
    • paediatric-onset