NR5A1

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

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green NR5A1 in Congenital adrenal hypoplasia Level 2: Endocrinology Version 4.11 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ideopathic Primary Adrenal Failure Congenital Adrenal Hypoplasia
Green NR5A1 in Primary ovarian insufficiency Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 1.71	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Radboud University Medical Center, Nijmegen Expert list Phenotypes premature ovarian failure, spermatogenic failure, adenocotical insufficiecny, 46 XY sex reversal 46XY sex reversal 3,612965 Premature ovarian failure 7,612964 Spermatogenic failure 8,613957
Green NR5A1 in Differences in sex development Level 2: Endocrinology Version 4.20 Latest signed off version: v4.5 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN 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
Green NR5A1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.186 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes 46XY SEX REVERSAL 3 SPERMATOGENIC FAILURE 8
No list NR5A1 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed DD-Gene2Phenotype Phenotypes SPERMATOGENIC FAILURE 8 613957 46XY SEX REVERSAL 3 612965 Tags curated_removed
Red NR5A1 in Intellectual disability Level 2: Developmental disorders Version 9.375 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes 46XY sex reversal 3, 612965 Premature ovarian failure 7, 612964 Adrenocortical insufficiency Spermatogenic failure 8, 613957