CHKB

choline kinase beta
OMIM: 612395, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green CHKB in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.205	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CHKB in Mendeliome Version 1.2302	1 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 1.85 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	2 reviews	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 0.969 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 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 1.63	1 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 1.42 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services 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 1.20 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	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	0 reviews	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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy, congenital, megaconial type
Green CHKB in Fetal anomalies Version 1.313	1 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 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, congenital, megaconial type, MIM#602541
Red CHKB in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Muscular dystrophy, congenital, megaconial type, MIM# 602541