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BabyScreen+ newborn screening

Gene: NR3C2

Green List (high evidence)
NR3C2 (nuclear receptor subfamily 3 group C member 2)
EnsemblGeneIds (GRCh38): ENSG00000151623
EnsemblGeneIds (GRCh37): ENSG00000151623
OMIM: 600983, Gene2Phenotype
NR3C2 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735

Created: 6 Oct 2022, 5:52 a.m.
Last Modified: 6 Oct 2022, 5:52 a.m.
Panel version: 0.461

David Amor (Murdoch Children's Research Institute)

Green List (high evidence)

Gene-disease association: strong. Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment.

Severity: moderate

Age of onset: infant

Non-molecular confirmatory testing: yes, blood pressure measurement and sodium, potassium, aldosterone, renin levels

Treatment: Sodium chloride (NaCl) replacement
Created: 5 Oct 2022, 1:50 a.m. | Last Modified: 5 Oct 2022, 1:50 a.m.
Panel Version: 0.274

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
NR3C2 associated pseudohypoaldosteronism, type I

Created: 5 Oct 2022, 1:50 a.m.
Last Modified: 5 Oct 2022, 1:50 a.m.
Panel version: 0.274

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Pseudohypoaldosteronism type I, autosomal dominant , MIM#177735
Tags
treatable endocrine
OMIM
600983
Clinvar variants
Variants in NR3C2
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: NR3C2. Tag endocrine tag was added to gene: NR3C2.

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nr3c2 has been classified as Green List (High Evidence).

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NR3C2 was added gene: NR3C2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: NR3C2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NR3C2 were set to Pseudohypoaldosteronism type I, autosomal dominant , MIM#177735