IKZF2

IKAROS family zinc finger 2
OMIM: 606234, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green IKZF2 in Mendeliome Version 1.2789	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodysregulation with variable immunodeficiency and autoimmunity, MIM# 621233 Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, MIM# 621234 nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related
Green IKZF2 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.124 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes HELIOS deficiency MONDO:0800139
Green IKZF2 in Disorders of immune dysregulation Level 2: Immunological disorders Version 1.16 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodysregulation with variable immunodeficiency and autoimmunity, MIM# 621233 Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, MIM# 621234
Amber IKZF2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.202	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, MIM# 621234
Green IKZF2 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.70	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes nonsyndromic genetic hearing loss MONDO:0019497, IKZF2-related