ISCA-46304-Gain

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ISCA-46304-Gain Region in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • ClinGen
  • ClinGen
Phenotypes
  • Syndromic X-linked intellectual disability Lubs type, MONDO:0010283

Green ISCA-46304-Gain Region in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • ClinGen
  • ClinGen
Phenotypes
  • Syndromic X-linked intellectual disability Lubs type, MONDO:0010283

Green ISCA-46304-Gain Region in Common deletion and duplication syndromes


Version 1.0

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Syndromic X-linked intellectual disability Lubs type, MONDO:0010283