Deafness_Isolated
Gene: IKZF2EnsemblGeneIds (GRCh38): ENSG00000030419
EnsemblGeneIds (GRCh37): ENSG00000030419
OMIM: 606234, Gene2Phenotype
IKZF2 is in 4 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
3 families with isolated hearing loss + missense variants located within the DNA binding domain (ZF2 and ZF3 motifs).
One other missense reported in the same region in an individual with syndromic hearing loss
Variants segregated in all 3 families except for family A where the father's twin sister had milder hearing loss and is WT/WT
protein expression and ability to repress IL2 expression via luciferase assay were conducted, demonstrating LoF
Sources: LiteratureCreated: 7 Nov 2024, 1:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related
Publications
- PMID: 39406892
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related
- OMIM
- 606234
- Clinvar variants
- Variants in IKZF2
- Penetrance
- None
- Publications
-
- PMID: 39406892
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: ikzf2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: ikzf2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: IKZF2 was added gene: IKZF2 was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKZF2 were set to PMID: 39406892 Phenotypes for gene: IKZF2 were set to nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related Review for gene: IKZF2 was set to GREEN gene: IKZF2 was marked as current diagnostic