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 4.21
Latest signed off version: v4.20 (6 May 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 7.11
Latest signed off version: v7.0 (6 May 2026)

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