KDM3B:Ensemblv90

lysine demethylase 3B
OMIM: 609373, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red KDM3B in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.405

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

Green KDM3B in Mendeliome


Version 1.3802

1 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 0.132

1 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 1.304

1 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 1.508

2 reviews 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 1.87

1 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

Red KDM3B in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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

Green KDM3B in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.0

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

Green KDM3B in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

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

Green KDM3B in Growth failure


Version 2.0

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