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  2. Newborns additional phenotypes panel 1
  3. NR5A1
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Newborns additional phenotypes panel 1

Gene: NR5A1

Green List (high evidence)
NR5A1 (nuclear receptor subfamily 5 group A member 1)
EnsemblGeneIds (GRCh38): ENSG00000136931
EnsemblGeneIds (GRCh37): ENSG00000136931
OMIM: 184757, Gene2Phenotype
NR5A1 is in 6 panels

1 review

Arina Puzriakova (Genomics England Curator)

Special Consideration: Internal inclusion list only

Additional Information: prioritisation of other LOF variants has been switched off
Created: 13 Feb 2026, 3:43 p.m. | Last Modified: 13 Feb 2026, 3:43 p.m.
Panel Version: 0.114
Special Consideration: Multiple MOIs for the same phenotype included.

Additional Information: AD and AR (variant specific) forms of NR5A1 associated adrenocortical insufficiency are included.
Created: 13 Feb 2026, 3:39 p.m. | Last Modified: 13 Feb 2026, 3:39 p.m.
Panel Version: 0.113
The mechanism of pathogenicity is loss-of-function (LOF).
Created: 13 Feb 2026, 3:38 p.m. | Last Modified: 13 Feb 2026, 3:38 p.m.
Panel Version: 0.113
Recessive PAI: Heterozygous c.275G>A carriers typically have DSD without adrenal failure. The homozygous state causes PAI in both 46,XX and 46,XY individuals, along with gonadal dysgenesis (PMID: 11932325; 26529631)
Sources: Expert list
Created: 13 Feb 2026, 3:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
NR5A1 associated adrenocortical insufficiency

Created: 13 Feb 2026, 3:37 p.m.

Panel version: 0.114

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • NR5A1 associated adrenocortical insufficiency
Tags
special_consideration internal_inclusion_list_only
OMIM
184757
Clinvar variants
Variants in NR5A1
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Arina Puzriakova (Genomics England Curator)

Mode of pathogenicity for gene: NR5A1 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

13 Feb 2026, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: nr5a1 has been classified as Green List (High Evidence).

13 Feb 2026, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: NR5A1 was added gene: NR5A1 was added to Newborns additional phenotypes panel 1. Sources: Expert list special_consideration, internal_inclusion_list_only tags were added to gene: NR5A1. Mode of inheritance for gene: NR5A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NR5A1 were set to NR5A1 associated adrenocortical insufficiency