SMG8

SMG8, nonsense mediated mRNA decay factor
OMIM: 613175
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Microcephaly, Short stature, Facial dysmorphism
R-numbers: R88
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Microcephaly, Short stature, Facial dysmorphism