KMT5B

lysine methyltransferase 5B
OMIM: 610881, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green KMT5B in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.205

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 51, MIM#617788

Green KMT5B in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 51

Amber KMT5B in Overgrowth


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.14

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 51, MIM#617788

Green KMT5B in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mental retardation, autosomal dominant 51, MIM#617788

Red KMT5B in Fetal anomalies


Version 1.314

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Mental retardation, autosomal dominant 51, MIM#617788