DLG2

discs large MAGUK scaffold protein 2
OMIM: 603583, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber DLG2 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability (MONDO#0001071), DLG2-related
Tags
  • SV/CNV

Amber DLG2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability (MONDO#0001071), DLG2-related
Tags
  • SV/CNV