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Primary immunodeficiency

Gene: IFNG

Red List (low evidence)

IFNG (interferon gamma)
EnsemblGeneIds (GRCh38): ENSG00000111537
EnsemblGeneIds (GRCh37): ENSG00000111537
OMIM: 147570, Gene2Phenotype
IFNG is in 5 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: This gene has been given Red status based on expert review. PMID: 32163377 does have some functional data; however, it is cellular-based work.
Created: 5 May 2020, 10:10 a.m. | Last Modified: 5 May 2020, 10:10 a.m.
Panel Version: 2.143

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Two cousins with MSMD and homozygous intragenic deletion, some functional data.
Sources: Literature
Created: 1 May 2020, 12:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mendelian susceptibility to mycobacterial disease

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Mendelian susceptibility to mycobacterial disease
OMIM
147570
Clinvar variants
Variants in IFNG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2020, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ifng has been classified as Red List (Low Evidence).

1 May 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: IFNG was added gene: IFNG was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: IFNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFNG were set to 32163377 Phenotypes for gene: IFNG were set to Mendelian susceptibility to mycobacterial disease Review for gene: IFNG was set to RED