PanelApp
  1. Genes and Genomic Entities
  2. KBTBD13

KBTBD13

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber KBTBD13 in Arrhythmogenic Cardiomyopathy


Level 2: Cardiovascular disorders
Version 0.73

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 1.3512

    		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 1.108

    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 1.465

    		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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		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