WDR11:Ensemblv115

WD repeat domain 11
OMIM: 606417, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green WDR11 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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

Green WDR11 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
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 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green WDR11 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

4 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genetic Health Queensland
  • Expert Review Green
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 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert List
Phenotypes
  • Hypogonadotropic hypogonadism 14 with or without anosmia, MIM# 614858

Green WDR11 in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 1.0

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