PanelApp
  1. Genes and Genomic Entities
  2. NR5A1

NR5A1

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green NR5A1 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 1.3499

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 0.362

1 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 1.465

1 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 Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.140

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Adrenocortical insufficiency, (MIM#612964)
Tags
  • treatable
  • endocrine

Green NR5A1 in Infertility and Recurrent Pregnancy Loss


Version 1.48

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure 7, MIM #612964
  • Spermatogenic failure 8, # 613957