NAA20

N(alpha)-acetyltransferase 20, NatB catalytic subunit
OMIM: 610833, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber NAA20 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • autosomal recessive developmental delay, intellectual disability, and microcephaly
Red NAA20 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • NAA20-associated developmental delay and microcephaly
    Amber NAA20 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 73, OMIM:619717
    Tags
    • Q1_25_ promote_green