ADD1

adducin 1
OMIM: 102680, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ADD1 in Mendeliome


Version 1.2302

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder MONDO:0700092, ADD1-related
Green ADD1 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.540

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder MONDO:0700092, ADD1-related
  • Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly
  • no OMIM #
Green ADD1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.63

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder MONDO:0700092, ADD1-related
  • Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly
  • no OMIM #
Green ADD1 in Fetal anomalies


Version 1.313

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder MONDO:0700092, ADD1-related