1. Genes and Genomic Entities
  2. NAA10

NAA10

N(alpha)-acetyltransferase 10, NatA catalytic subunit
OMIM: 300013, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red NAA10 in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
Phenotypes
  • Microphthalmia, syndromic 1, 309800
Green NAA10 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.185
Latest signed off version: v6.0 (30 Apr 2025)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • X-linked anophthalmia syndrome/Lenz
  • OGDEN SYNDROME
  • NONPECIFIC SEVERE ID
  • X-linked anophthalmia syndrome
Green NAA10 in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • X-linked anophthalmia syndrome/Lenz
    • NONPECIFIC SEVERE ID
    • X-linked anophthalmia syndrome
    • OGDEN SYNDROME 300855
    Green NAA10 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • N-terminal acetyltransferase deficiency, 300855
    • NONPECIFIC SEVERE ID
    Green NAA10 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.40
    Latest signed off version: v4.0 (7 Aug 2024)

    		review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Microphthalmia, syndromic 1, 309800
    Amber NAA10 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.99
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Ogden syndrome, OMIM:300855