1. Genes and Genomic Entities
  2. HOXC13

HOXC13

homeobox C13
OMIM: 142976, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green HOXC13 in Ectodermal dysplasia


Level 2: Dermatology
Version 4.23
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 9, hair/nail type, 614931
Green HOXC13 in Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.30

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ectodermal dysplasia 9, hair/nail type, 614931
Red HOXC13 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • PURE HAIR AND NAIL ECTODERMAL DYSPLASIA
Green HOXC13 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PURE HAIR AND NAIL ECTODERMAL DYSPLASIA 614931
    Red HOXC13 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.280
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Ectodermal dysplasia 9, hair/nail type, 614931