SMG8:Ensemblv90

SMG8, nonsense mediated mRNA decay factor
OMIM: 613175, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red SMG8 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.405

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Alzahrani-Kuwahara syndrome, MIM#619268

Green SMG8 in Mendeliome


Version 1.3802

4 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alzahrani-Kuwahara syndrome, MIM# 619268
  • Intellectual disability

Green SMG8 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alzahrani-Kuwahara syndrome, MIM# 619268
  • Intellectual disability

Red SMG8 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Alzahrani-Kuwahara syndrome, MIM#619268