STAG2

stromal antigen 2
OMIM: 300826, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green STAG2 in Holoprosencephaly and septo-optic dysplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.16

review Other
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Holoprosencephaly 13, X-linked, MIM# 301043

Green STAG2 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
  • Other
Phenotypes
  • Mullegama-Klein-Martinez syndrome, MIM#301022

Green STAG2 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
  • Expert list
Phenotypes
  • Mullegama-Klein-Martinez syndrome, MIM#301022

Green STAG2 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

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
  • Expert Review
Phenotypes
  • Mullegama-Klein-Martinez syndrome, MIM#301022

Green STAG2 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
  • Literature
  • Expert list
Phenotypes
  • Mullegama-Klein-Martinez syndrome, MIM# 301022
  • Holoprosencephaly 13, X-linked, MIM# 301043