KMT5B

lysine methyltransferase 5B
OMIM: 610881, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green KMT5B in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.250

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

Green KMT5B in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.85

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 51 MIM# 617788

Green KMT5B in Mendeliome


Version 1.4851

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 51 MIM# 617788

Amber KMT5B in Overgrowth


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.21

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 51 MIM# 617788

Green KMT5B in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.780

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 51 MIM# 617788

Red KMT5B in Fetal anomalies


Version 1.576

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 51 MIM# 617788