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Newborns main panel

Gene: IFNGR1

Green List (high evidence)
IFNGR1 (interferon gamma receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000027697
EnsemblGeneIds (GRCh37): ENSG00000027697
OMIM: 107470, Gene2Phenotype
IFNGR1 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Variants in the first 5 exons result in recessive disease, while variant in exon 6 and 7 result in dominant negative disease (Figure 1 - PMID: 25453225)
Created: 24 Jan 2025, 3:57 p.m. | Last Modified: 24 Jan 2025, 3:57 p.m.
Panel Version: 0.476
Special Consideration: Multiple MOIs for the same phenotype included.

Additional Information: AD (DN) and AR (LOF) forms of Immunodeficiency are included.
Created: 26 Sep 2024, 3:40 p.m. | Last Modified: 18 Nov 2025, 3:26 p.m.
Panel Version: 0.480

Publications

Created: 26 Sep 2024, 3:40 p.m.
Last Modified: 18 Nov 2025, 3:26 p.m.
Panel version: 0.476

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
https://pubmed.ncbi.nlm.nih.gov/25453225/ and https://pubmed.ncbi.nlm.nih.gov/15589309/
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
27A is AR and 27B is AD. Shouldn't we split? -> DB: Need to ask experts if they want both AD and AR. Same phenotype but different severity
Created: 17 May 2023, 1:46 p.m. | Last Modified: 17 May 2023, 1:46 p.m.
Panel Version: 0.83
Created: 17 May 2023, 1:46 p.m.
Last Modified: 17 May 2023, 1:46 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 27A, mycobacteriosis, autosomal recessive
Tags
special_consideration
OMIM
107470
Clinvar variants
Variants in IFNGR1
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: IFNGR1.

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: IFNGR1 were changed from Immunodeficiency 27A, mycobacteriosis to Immunodeficiency 27A, mycobacteriosis, autosomal recessive

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 27A, mycobacteriosis for gene: IFNGR1

5 Jul 2023, Gel status: 3

Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene IFNGR1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Immunodeficiency 27A, mycobacteriosis for gene: IFNGR1

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 27A, mycobacteriosis for gene: IFNGR1

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to IFNGR1. Added phenotypes Immunodeficiency 27A, mycobacteriosis for gene: IFNGR1 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to IFNGR1. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 27A, mycobacteriosis for gene: IFNGR1

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: IFNGR1 was added gene: IFNGR1 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: IFNGR1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal