CHUK

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber CHUK in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Combined immunodeficiency, MONDO:0015131, CHUK-related Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339 Cocoon syndrome, MIM# 613630 AEC-like syndrome
Amber CHUK in Combined Immunodeficiency Level 2: Immunological disorders Version 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined immunodeficiency, MONDO:0015131, CHUK-related
Amber CHUK in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.74 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes ?Popliteal pterygium syndrome, Bartsocas-Papas type 2 MIM#619339 Cocoon syndrome MIM#613630
Amber CHUK in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339 Cocoon syndrome, MIM# 613630 AEC-like syndrome

4 panels