KDM1A

lysine demethylase 1A
OMIM: 609132, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red KDM1A in Congenital adrenal hypoplasia


Level 2: Endocrinology
Version 5.4
Latest signed off version: v5.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728
  • congenital adrenal hyperplasia, MONDO:0018479
Amber KDM1A in Haematological malignancies cancer susceptibility


Level 2: Cancer susceptibility
Version 5.1
Latest signed off version: v5.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Multiple myeloma
Amber KDM1A in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.10
Latest signed off version: v7.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728
  • Cleft palate, psychomotor retardation, and distinctive facial features
Green KDM1A in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Developmental delay and distinctive facial features
    Amber KDM1A in Clefting


    Level 2: Musculoskeletal
    Version 7.3
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cleft palate,psychomotor retardation,distinctive facial features, 616728
    Tags
    • watchlist
    Green KDM1A in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cleft palate, psychomotor retardation, and distinctive facial features, 616728
    • Developmental delay