SMG8

SMG8, nonsense mediated mRNA decay factor
OMIM: 613175
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SMG8-related Developmental Disorder
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Microcephaly, Short stature, Facial dysmorphism
R-numbers: R88
Signed-off version 4.41
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Microcephaly, Short stature, Facial dysmorphism