DLG2

discs large MAGUK scaffold protein 2
OMIM: 603583, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green DLG2 in Mendeliome


Version 1.4851

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability (MONDO#0001071), DLG2-related
  • delayed puberty, self-limited, MONDO:0859205
Tags
  • SV/CNV

Amber DLG2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.780

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

Green DLG2 in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.226

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • delayed puberty, self-limited, MONDO:0859205
Tags
  • SV/CNV

Green DLG2 in Hypogonadotropic hypogonadism

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.137

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • delayed puberty, self-limited, MONDO:0859205
Tags
  • SV/CNV