MSL3

MSL complex subunit 3
OMIM: 300609, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green MSL3 in Fetal anomalies


Version 1.107
Signed off v.1.92 on 21 Aug 2020

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 2.10
Signed off v.2.2 on 13 Feb 2020

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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.484
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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

    Green MSL3 in Severe Paediatric Disorders


    Version 1.11

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, X-linked, syndromic, 36, 301032