WNT7A

Wnt family member 7A
OMIM: 601570, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green WNT7A in Radial dysplasia

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Ulna and fibula, absence of, with severe limb deficiency, 276820
  • Short, bowed radii
  • absence of a radius
  • Fuhrmann syndrome, 228930
Red WNT7A in VACTERL-like phenotypes

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

review Not set
Sources
  • Emory Genetics Laboratory
Green WNT7A in Limb disorders


Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert Review Green
    • Emory Genetics Laboratory
    • Expert list
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Polydactyly
    • Ulna and fibula, absence of, with severe limb deficiency 276820
    • absence of a radius
    • Fuhrmann syndrome, 228930
    • Fuhrmann syndrome 228930
    • Ulna and fibula, absence of, with severe limb deficiency, 276820
    • Short, bowed radii
    Red WNT7A in Ectodermal dysplasia


    Version 3.29
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Fuhrmann syndrome, 228930
    Green WNT7A in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Ulna and fibula, absence of, with severe limb deficiency 276820
    • Fuhrmann syndrome 228930
    Green WNT7A in Fetal anomalies


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FUHRMANN SYNDROME
    • LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME
    Green WNT7A in DDG2P


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

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FUHRMANN SYNDROME 228930
    • LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME 276820
    Red WNT7A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    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
    • Ulna and fibula, absence of, with severe limb deficiency, 276820
    • Fuhrmann syndrome, 228930
    Green WNT7A in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ulna and fibula, absence of, with severe limb deficiency, 276820
    • Fuhrmann syndrome, 228930