CHUK

conserved helix-loop-helix ubiquitous kinase
OMIM: 600664, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red CHUK in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Expert Review Phenotypes recurrent infections skeletal abnormalities absent secondary lymphoid structures reduced B cell numbers hypogammaglobulinemia lymphocytic infiltration of intestine and liver
Green CHUK in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Cocoon syndrome, OMIM:613630 Popliteal pterygium syndrome, Bartsocas-Papas type 2, OMIM:619339
Green CHUK in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COCOON SYNDROME 613630
Red CHUK in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cocoon syndrome, 613630
Green CHUK in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Cocoon syndrome, 613630