SMG9

SMG9, nonsense mediated mRNA decay factor
OMIM: 613176, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SMG9 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Heart and brain malformation syndrome, MIM# 616920

Green SMG9 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Heart and brain malformation syndrome, MIM# 616920
  • Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995

Green SMG9 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.540

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SMG9 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
  • Expert list
Phenotypes
  • Heart and brain malformation syndrome, MIM# 616920
  • Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995

Amber SMG9 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.260

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • HBMS
  • HEART AND BRAIN MALFORMATION SYNDROME

Green SMG9 in Fetal anomalies


Version 1.314

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Heart and brain malformation syndrome, MIM# 616920