Genomics England
GMS Panels
Panels
Genes and Entities

SMG8

SMG8, nonsense mediated mRNA decay factor
OMIM: 613175
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SMG8-related Developmental Disorder
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alzahrani-Kuwahara syndrome, OMIM:619268
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Microcephaly, Short stature, Facial dysmorphism
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 9.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Microcephaly, Short stature, Facial dysmorphism
Green
in Structural eye disease
R-numbers: R36
Signed-off version 5.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alzahrani-Kuwahara syndrome, OMIM:619268