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Newborns main panel

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

2 reviews

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: 0.505
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: 0.504
Created: 13 Feb 2026, 3:39 p.m.
Last Modified: 13 Feb 2026, 3:39 p.m.
Panel version: 0.505

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 22028768 - 5 cases. PMID: 34613524 10 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
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 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

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: NR5A1. Tag internal_inclusion_list_only tag was added to gene: NR5A1.

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to NR5A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes NR5A1 associated adrenocortical insufficiency for gene: NR5A1

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to NR5A1. Added phenotypes NR5A1 associated adrenocortical insufficiency for gene: NR5A1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to NR5A1. Added phenotypes NR5A1 associated adrenocortical insufficiency for gene: NR5A1 Rating Changed from No List (delete) to Red List (low evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to NR5A1. Rating Changed from Red List (low evidence) to No List (delete)

9 Mar 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes NR5A1 associated adrenocortical insufficiency for gene: NR5A1

9 Mar 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: NR5A1 was added gene: NR5A1 was added to Newborns main panel. Sources: Expert Review Red Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown