STAG2

stromal antigen 2
OMIM: 300826
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
STAG2-related developmental delay with microcephaly and congenital anomalies
R-numbers: R21, R412
Signed-off version 2.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
STAG2-related developmental delay with microcephaly and congenital anomalies
Component of the following Super Panels:
  • - Cerebral malformations
R-numbers: R85
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Holoprosencephaly 13, X-linked OMIM:301043
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
STAG2-related developmental delay with microcephaly and congenital anomalies, STAG2-related X-linked Intellectual Deficiency, cohesinopathy, Global developmental delay, Intellectual disability, Abnormality of head or neck, Microcephaly, Growth delay, Hearing impairment, Abnormal heart morphology