Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Congenital adrenal hypoplasiaR-numbers: R150 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ideopathic Primary Adrenal Failure, Congenital Adrenal Hypoplasia, Lipoid adrenal hyperplasia, 201710 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA 201710 |
Green in Differences in sex developmentR-numbers: R146 Signed-off version 4.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN), Lipoid adrenal hyperplasia, 201710 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA |