ISCA-46302-Gain

2 panels

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


Level 2: Endocrinology
Version 4.23
Latest signed off version: v4.22 (12 Aug 2026)

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


Level 2: Fetal (including NIPD)
Version 8.5
Latest signed off version: v8.0 (12 Aug 2026)

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