DOT1L

DOT1 like histone lysine methyltransferase
OMIM: 607375, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green DOT1L in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.184
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Nil-Deshwar neurodevelopmental syndrome, OMIM:621265
Green DOT1L in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Nil-Deshwar neurodevelopmental syndrome, OMIM:621265
    Tags
    • de novo