Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-46743-Loss

Xq25 region (includes STAG2) Loss
PanelMode of inheritanceDetails
2 panels
Green
in Holoprosencephaly - NOT chromosomal
Component of the following Super Panels:
  • - Cerebral malformation
R-numbers: R85
Signed-off version 5.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes