NR5A1

nuclear receptor subfamily 5 group A member 1
OMIM: 184757, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green NR5A1 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adrenocortical insufficiency, (MIM#612964) 46, XX sex reversal 4, (MIM# 617480) Premature ovarian failure 7, (MIM#612964) Spermatogenic failure 8, (MIM#613957) 46XY sex reversal 3, (MIM#612965)
Green NR5A1 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adrenocortical insufficiency, (MIM#612964) 46, XX sex reversal 4, (MIM# 617480) Premature ovarian failure 7, (MIM#612964) Spermatogenic failure 8, (MIM#613957) 46XY sex reversal 3, (MIM#612965)
Green NR5A1 in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 0.328	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health QLD Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spermatogenic failure 8,613957 46XY sex reversal 3,612965 Premature ovarian failure 7,612964
Green NR5A1 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes 46, XX sex reversal 4 (MIM#617480) 46XY sex reversal 3 (MIM#612965)
Green NR5A1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BeginNGS Phenotypes Adrenocortical insufficiency, (MIM#612964) Tags treatable endocrine