DLG3

discs large MAGUK scaffold protein 3
OMIM: 300189, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green DLG3 in Mendeliome


Version 1.2374

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked 90, MIM#300850

Green DLG3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, X-linked 90, MIM#300850

Green DLG3 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 90, 300850 (3)

Red DLG3 in Fetal anomalies


Version 1.314

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, X-linked 90, MIM#300850

Green DLG3 in Prepair 1000+


Level 2: Screening
Version 1.1586

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked 90 MIM#300850

Green DLG3 in Prepair 500+


Level 2: Screening
Version 1.5

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 90, 300850 (3)