NONO

non-POU domain containing octamer binding
OMIM: 300084, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green NONO in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mental retardation, X-linked, syndromic 34, MIM# 300967

Green NONO in Mendeliome


Version 1.2374

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967

Green NONO in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.540

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967

Green NONO in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967

Green NONO in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 0.196

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS

Green NONO in Fetal anomalies


Version 1.314

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Mental retardation, X-linked, syndromic 34, MIM# 300967
  • Ventricular septal defect (VSD)
  • Pulmonary stenosis
  • Ebstein s anomaly
  • Left ventricular non-compaction cardiomyopathy (LVNC)