KDM1A

lysine demethylase 1A
OMIM: 609132, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green KDM1A in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cleft palate, psychomotor retardation, and distinctive facial features 616728
  • Multiple myeloma

Green KDM1A 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
  • Genetic Health Queensland
Phenotypes
  • Cleft palate, psychomotor retardation, and distinctive facial features 616728

Amber KDM1A in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Amber
Phenotypes
  • Cleft palate,psychomotor retardation,distinctive facial features, 616728

Green KDM1A in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Cleft palate, psychomotor retardation, and distinctive facial features 616728