KDM3B

lysine demethylase 3B
OMIM: 609373, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

No list KDM3B in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Diets-Jongmans syndrome, MIM#618846

Green KDM3B in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diets-Jongmans syndrome, MIM# 618846
  • Intellectual disability
  • dysmorphic features
  • short stature

Green KDM3B in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diets-Jongmans syndrome, MIM# 618846
  • Cancer predisposition

Green KDM3B in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Diets-Jongmans syndrome, MIM# 618846
  • Intellectual disability
  • short stature
  • deafness

Green KDM3B in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diets-Jongmans syndrome, MIM# 618846
  • Intellectual disability
  • dysmorphic features
  • short stature

Green KDM3B in Growth failure


Version 1.76

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Diets-Jongmans syndrome, MIM# 618846
  • Intellectual disability
  • short stature
  • deafness