MSL3

MSL complex subunit 3
OMIM: 300609, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MSL3 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.65

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
  • Literature
Phenotypes
  • Basilicata-Akhtar syndrome, OMIM # 301032

Green MSL3 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

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
  • Literature
Phenotypes
  • Basilicata-Akhtar syndrome MIM#301032

Green MSL3 in Mendeliome


Version 1.1891

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
  • Basilicata-Akhtar syndrome, OMIM # 301032

Green MSL3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

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
  • Genetic Health Queensland
Phenotypes
  • Basilicata-Akhtar syndrome, OMIM # 301032

Green MSL3 in Fetal anomalies


Version 1.255

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
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Basilicata-Akhtar syndrome, MIM# 301032