WNT4

Wnt family member 4
OMIM: 603490, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber WNT4 in Differences in sex development


Level 2: Endocrinology
Version 4.41
Latest signed off version: v4.22 (12 Aug 2026)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • SERKAL syndrome, OMIM:611812
  • SERKAL syndrome, MONDO:0012734
  • 46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs
Amber WNT4 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.31
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • SERKAL syndrome, OMIM:611812
  • MULLERIAN APLASIA AND HYPERANDROGENISM
  • SERKAL SYNDROME
Tags
  • Q3_26_promote_green
Green WNT4 in DDG2P


Version 8.2
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • MULLERIAN APLASIA AND HYPERANDROGENISM 158330
    • SERKAL SYNDROME 611812
    Amber WNT4 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 8.34
    Latest signed off version: v8.8 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • SERKAL syndrome, OMIM:611812
    • SERKAL syndrome, MONDO:0012734
    • 46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs
    Tags
    • Q4_26_promote_green
    Red WNT4 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.86
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • MULLERIAN APLASIA AND HYPERANDROGENISM