ISCA-46302-Gain

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ISCA-46302-Gain Region in Differences in sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.6
Latest signed off version: v4.5 (1 May 2024)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • gonadal dysgenesis
Green ISCA-46302-Gain Region in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • gonadal dysgenesis