WDR11

WD repeat domain 11
OMIM: 606417, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green WDR11 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 14 with or without anosmia, MIM#614858

Green WDR11 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 78, MIM# 620237
  • Hypogonadotropic hypogonadism 14 with or without anosmia MIM #614858

Green WDR11 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 78, MIM# 620237
  • Intellectual disability
  • Microcephaly
  • Short stature

Green WDR11 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.522

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green WDR11 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, WDR11-related

Green WDR11 in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.328

review Not set
Sources
  • Expert Review Green
  • Royal Melbourne Hospital

Red WDR11 in Pituitary hormone deficiency


Level 2: Endocrine disorders
Version 0.34

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Hypogonadotropic hypogonadism 14 with or without anosmia (614858)

Amber WDR11 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Intellectual disability
  • Microcephaly
  • Short stature