HOXA13

homeobox A13
OMIM: 142959, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green HOXA13 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hand-foot-uterus syndrome, 140000
Green HOXA13 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • 140000
Green HOXA13 in Limb disorders


Version 5.2
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Hand-foot-genital syndrome 140000
    • Hand-foot-uterus syndrome, 140000
    • Guttmacher syndrome 176305
    • Polydactyly
    Green HOXA13 in Differences in sex development

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 4.6
    Latest signed off version: v4.5 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hand-foot-uterus syndrome, OMIM:140000
    Green HOXA13 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Hand-foot-genital syndrome 140000
    • Hand-foot-uterus syndrome 140000
    • Guttmacher syndrome 176305
    Green HOXA13 in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.177

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hand-foot-uterus syndrome, 140000
    Green HOXA13 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HAND-FOOT-GENITAL SYNDROME
    Green HOXA13 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HAND-FOOT-GENITAL SYNDROME 140000
    Red HOXA13 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.11
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Hand-foot-uterus syndrome, 140000
    • Guttmacher syndrome, 176305
    Green HOXA13 in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hand-foot-uterus syndrome, 140000
    • ?Guttmacher syndrome, 176305