Genomics England
GMS Panels
Panels
Genes and Entities

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 3.79
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
STAG2-related developmental delay with microcephaly and congenital anomalies
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
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
Green
in Holoprosencephaly - NOT chromosomal
Component of the following Super Panels:
  • - Cerebral malformation
R-numbers: R85
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
Holoprosencephaly 13, X-linked OMIM:301043
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
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