Defects of intrinsic and innate immunity
Gene: ZNFX1EnsemblGeneIds (GRCh38): ENSG00000124201
EnsemblGeneIds (GRCh37): ENSG00000124201
ZNFX1 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
15 individuals from 8 families reported.
Sources: LiteratureCreated: 7 May 2021, 2:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 91 and hyperinflammation, MIM# 619644
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Expert Review Green
- Literature
- Phenotypes
-
- immunodeficiency 91 and hyperinflammation MONDO:0030491
- Clinvar variants
- Variants in ZNFX1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: znfx1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ZNFX1 was added gene: ZNFX1 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNFX1 were set to 33872655 Phenotypes for gene: ZNFX1 were set to immunodeficiency 91 and hyperinflammation MONDO:0030491