KBTBD13

kelch repeat and BTB domain containing 13
OMIM: 613727, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber KBTBD13 in Arrhythmogenic Cardiomyopathy Level 2: Cardiovascular disorders Version 0.68 Component of the following Super Panels: Adult Cardiac SuperPanel Arrhythmia_SuperPanel Cardiomyopathy_Adult_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intrinsic cardiomyopathy MONDO:0000591
Green KBTBD13 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 6, autosomal dominant, MIM# 609273 Hereditary motor neuropathy late-onset limb girdle muscular dystrophy
Green KBTBD13 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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Expert Review Green Phenotypes Nemaline myopathy 6, autosomal dominant (MIM# 609273 MONDO:0012237)
Green KBTBD13 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Nemaline myopathy
Red KBTBD13 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Nemaline myopathy 6, autosomal dominant (MIM#609273)
Red KBTBD13 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Nemaline myopathy 6, autosomal dominant, MIM# 609273 Hereditary motor neuropathy late-onset limb girdle muscular dystrophy