STAG2

STAG2 cohesin complex component
OMIM: 300826, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green STAG2 in Holoprosencephaly and septo-optic dysplasia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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

Green STAG2 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 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
  • Expert Review Green
Phenotypes
  • Mullegama-Klein-Martinez syndrome, MIM#301022

Green STAG2 in Fetal anomalies


Version 2.0

2 reviews X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Literature
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Mullegama-Klein-Martinez syndrome, MIM# 301022
  • Holoprosencephaly 13, X-linked, MIM# 301043