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Early onset or syndromic epilepsy

Gene: ZNFX1

Green List (high evidence)
ZNFX1 (zinc finger NFX1-type containing 1)
EnsemblGeneIds (GRCh38): ENSG00000124201
EnsemblGeneIds (GRCh37): ENSG00000124201
ZNFX1 is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 10:58 a.m. | Last Modified: 26 Sep 2024, 10:58 a.m.
Panel Version: 6.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 26 Sep 2024, 10:58 a.m.
Last Modified: 26 Sep 2024, 10:58 a.m.
Panel version: 6.6

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be green on this panel.
Created: 5 Mar 2024, 10:55 a.m. | Last Modified: 5 Mar 2024, 10:55 a.m.
Panel Version: 5.492
ZNFX1 variants are associated with Immunodeficiency 91 and hyperinflammation (OMIM:619644). Neurological involvement has been observed in at least 11 patients with OMIM:619644 (PMID:33876776;33872655). Of these, four had seizures, three had developmental regression, and one had developmental delay. The incidence of neurological involvement could be higher, but the mortality of affected children is high; in PMID:33872655 11/15 cases were deceased, with seven of these not surviving to 3 months of age.
Created: 5 Mar 2024, 10:54 a.m. | Last Modified: 5 Mar 2024, 10:54 a.m.
Panel Version: 5.491
Sources: Literature
Created: 4 Mar 2024, 5:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 91 and hyperinflammation, OMIM:619644; immunodeficiency 91 and hyperinflammation, MONDO:0030491

Publications

Created: 4 Mar 2024, 5:56 p.m.

Copied from panel: Intellectual disability - microarray and sequencing v5.492

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Immunodeficiency 91 and hyperinflammation, OMIM:619644
  • immunodeficiency 91 and hyperinflammation, MONDO:0030491
Tags
gene-checked
Clinvar variants
Variants in ZNFX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_24_promote_green was removed from gene: ZNFX1. Tag Q1_24_NHS_review was removed from gene: ZNFX1.

26 Sep 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to ZNFX1. Source Expert Review Green was added to ZNFX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Apr 2024, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: ZNFX1.

5 Mar 2024, Gel status: 2

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

Sarah Leigh (Genomics England Curator)

gene: ZNFX1 was added gene: ZNFX1 was added to Early onset or syndromic epilepsy. Sources: Literature,Expert Review Amber Q1_24_promote_green, Q1_24_NHS_review tags were added to gene: ZNFX1. Mode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNFX1 were set to 33876776; 33872655 Phenotypes for gene: ZNFX1 were set to Immunodeficiency 91 and hyperinflammation, OMIM:619644; immunodeficiency 91 and hyperinflammation, MONDO:0030491