SMG8

SMG8, nonsense mediated mRNA decay factor
OMIM: 613175, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red SMG8 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

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

Green SMG8 in Mendeliome


Version 1.2374

review 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 1.83

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