ADD1

adducin 1
OMIM: 102680, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ADD1 in Mendeliome


Version 1.1902

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 0.522

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 0.6063

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 1.255

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