WDR11

WD repeat domain 11
OMIM: 606417, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red WDR11 in Pituitary hormone deficiency


Level 2: Endocrinology
Version 4.4
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center
Phenotypes
  • Hypogonadotropic hypogonadism 14 with or without anosmia, OMIM:614858
  • hypogonadotropic hypogonadism 14 with or without anosmia, MONDO:0013926
Green WDR11 in Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.42

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • OMIM
Phenotypes
  • Hypogonadotropic hypogonadism 14 with or without anosmia, 614858
Green WDR11 in Hypogonadotropic hypogonadism (GMS)


Level 2: Endocrinology
Version 4.7
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hypogonadotropic hypogonadism type 14 (OMIM 614858)
Green WDR11 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Intellectual disability, MONDO:0001071
  • Microcephaly, MONDO:0001149
  • Short stature,HP:0004322
Red WDR11 in Fetal anomalies


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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • KALLMANN SYNDROME
Green WDR11 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
    • KALLMANN SYNDROME
    Amber WDR11 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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 Amber
    Phenotypes
    • Intellectual disability, MONDO:0001071
    • Microcephaly, MONDO:0001149
    • Short stature,HP:0004322
    Tags
    • watchlist