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Newborns additional phenotypes panel 1

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: 0.102
Comment on mode of pathogenicity: The mechanism of pathogenicity for AD phenotype is dominant-negative (DN) (not LoF as stated in previous comments).
Created: 14 Jan 2025, 5:54 p.m. | Last Modified: 14 Jan 2025, 5:54 p.m.
Panel Version: 0.102
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: 0.102
Created: 26 Sep 2024, 3:40 p.m.
Last Modified: 18 Nov 2025, 3:26 p.m.
Panel version: 0.102

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 5 Jul 2023, 3:12 p.m. | Last Modified: 5 Jul 2023, 3:12 p.m.
Panel Version: 0.31
https://pubmed.ncbi.nlm.nih.gov/25453225/ and https://pubmed.ncbi.nlm.nih.gov/15589309/
Created: 5 Jul 2023, 3:12 p.m. | Last Modified: 5 Jul 2023, 3:12 p.m.
Panel Version: 0.31
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: 5 Jul 2023, 3:12 p.m. | Last Modified: 5 Jul 2023, 3:12 p.m.
Panel Version: 0.31
Created: 5 Jul 2023, 3:12 p.m.
Last Modified: 5 Jul 2023, 3:12 p.m.
Panel version: 0.31

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 27A, mycobacteriosis, Autosomal dominant
Tags
special_consideration
OMIM
107470
Clinvar variants
Variants in IFNGR1
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

14 Jan 2025, Gel status: 3

Set mode of pathogenicity

Arina Puzriakova (Genomics England Curator)

Mode of pathogenicity for gene: IFNGR1 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

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 dominant

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

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

Mafalda Gomes (Genomics England Curator)

gene: IFNGR1 was added gene: IFNGR1 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: IFNGR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: IFNGR1 were set to Immunodeficiency 27A, mycobacteriosis