NR5A1

nuclear receptor subfamily 5 group A member 1
OMIM: 184757
PanelMode of inheritanceDetails
4 panels
R-numbers: R150
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ideopathic Primary Adrenal Failure, Congenital Adrenal Hypoplasia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SPERMATOGENIC FAILURE 8 613957, 46XY SEX REVERSAL 3 612965
R-numbers: R146
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN), Endocrine disorders including disorders of sexual development (Emory), 46XY sex reversal 3, 612965, Premature ovarian failure 7, 612964, Spermatogenic failure 8, 613957
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
46XY SEX REVERSAL 3, SPERMATOGENIC FAILURE 8