Congenital myopathy
Gene: KBTBD13
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nemaline Myopathy, Dominant; Nemaline myopathy 6, autosomal dominant, 609273
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nemaline Myopathy, Dominant; Nemaline myopathy 6, autosomal dominant, 609273
Publications
5 unrelated families identified, 3 mutations; all missense to date.Created: 26 Jan 2017, 10:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nemaline myopathy 6, autosomal dominant 609273
Publications
Phenotypes for gene: KBTBD13 were changed from Nemaline Myopathy, Dominant; Nemaline myopathy 6, autosomal dominant, 609273 to Nemaline myopathy 6, autosomal dominant, OMIM:609273
Source NHS GMS was added to KBTBD13.
Source London South GLH was added to KBTBD13. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
This gene has been classified as Green List (High Evidence).
Publications for KBTBD13 were set to 21109227
KBTBD13 was added to Congenital myopathypanel. Sources: Expert
KBTBD13 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
KBTBD13 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services
KBTBD13 was added to Congenital myopathypanel. Sources: UKGTN