NR5A1

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green NR5A1 in Congenital adrenal hypoplasia

Level 3: Adrenal disorders
Level 2: Endocrine disorders
Version 2.11
Latest signed off version: v2.2 (19 Feb 2020)

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 1.67

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 Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 2.66
Latest signed off version: v2.2 (3 Mar 2020)

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


Version 1.880
Latest signed off version: v1.92 (21 Aug 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • 46XY SEX REVERSAL 3
  • SPERMATOGENIC FAILURE 8

Green NR5A1 in DDG2P


Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • SPERMATOGENIC FAILURE 8 613957
    • 46XY SEX REVERSAL 3 612965

    Red NR5A1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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

    Green NR5A1 in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Premature ovarian failure 7, 612964
    • 46, XX sex reversal 4, 617480
    • Spermatogenic failure 8, 613957
    • Adrenocortical insufficiency, 612964
    • 46XY sex reversal 3, 612965