Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-46743-Loss

Xq25 region (includes STAG2) Loss
PanelMode of inheritanceDetails
2 panels
Green
in Holoprosencephaly
Component of the following Super Panels:
  • - Cerebral malformation
  • - Paediatric disorders
R-numbers: R85
Signed-off version 6.3
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:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes