| Panel | Mode of inheritance | Details |
|---|---|---|
3 panels | ||
Green in Congenital adrenal hypoplasiaR-numbers: R150 Signed-off version 3.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes 46XY sex reversal 2, dosage-sensitive, 300018, Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, 300200, Adrenal Hypoplasia, Congenital, AHC, Ideopathic Primary Adrenal Failure, Congenital Adrenal Hypoplasia, males with combined glucocorticoid and mineralocorticoid insufficiency with a family history consistent with an X-linked disorder |
Green in Differences in sex developmentR-numbers: R146 Signed-off version 4.5 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes 6XY sex reversal 2, dosage-sensitive 300018, Adrenal hypoplasia, congenital 300200 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Adrenal hypoplasia, congenital 300200, 46XY sex reversal 2, dosage-sensitive 300018 |