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 4.17
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


Level 2: Fetal (including NIPD)
Version 6.185
Latest signed off version: v6.0 (30 Apr 2025)

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