MSL3

MSL complex subunit 3
OMIM: 300609, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green MSL3 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.11
Latest signed off version: v7.0 (6 May 2026)

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
  • MSL3 syndrome
  • Basilicata-Akhtar syndrome, 301032
Green MSL3 in DDG2P


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

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
    • MSL3 syndrome
    Green MSL3 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.18
    Latest signed off version: v10.0 (6 May 2026)

    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
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Muscular hypotonia
    • Feeding difficulties
    • Neurodevelopmental delay
    • Intellectual disability
    • Basilicata-Akhtar syndrome, 301032