CHKB

choline kinase beta
OMIM: 612395, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green CHKB in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.198	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CHKB in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, congenital, megaconial type, MIM# 602541
Green CHKB in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, congenital, megaconial type, MIM# 602541
Green CHKB in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Muscular dystrophy, congenital, megaconial type, MIM# 602541 Intellectual disability Abnormal mitochondria
Green CHKB in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Muscular dystrophy, congenital, megaconial type, MIM# 602541
Amber CHKB in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.27 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes megaconial type congenital muscular dystrophy MONDO:0011246 CHKB-Related Muscular Dystrophy
Amber CHKB in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.6 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes megaconial type congenital muscular dystrophy MONDO:0011246 recurrent rhabdomyolysis CHKB-Related Muscular Dystrophy
Green CHKB in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, congenital, megaconial type, 602541 (3)
Green CHKB in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy, congenital, megaconial type
Green CHKB in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Muscular dystrophy, congenital, megaconial type, MIM# 602541
Green CHKB in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, congenital, megaconial type, 602541 (3)
Red CHKB in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Muscular dystrophy, congenital, megaconial type, MIM# 602541