KBTBD13

kelch repeat and BTB domain containing 13
OMIM: 613727, ClinGen, DECIPHER

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	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intrinsic cardiomyopathy MONDO:0000591
Green KBTBD13 in Mendeliome Version 1.2302	3 reviews	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 1.85 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	2 reviews	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	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Nemaline myopathy
Red KBTBD13 in Fetal anomalies Version 1.313	1 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 1.116	1 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