Congenital myopathy
Gene: KBTBD13EnsemblGeneIds (GRCh38): ENSG00000234438
EnsemblGeneIds (GRCh37): ENSG00000234438
OMIM: 613727, Gene2Phenotype
KBTBD13 is in 6 panels
4 reviews
Louise Daugherty (Genomics England Curator)
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.
Rachael Mein (Viapath at Guy's Hospital)
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
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nemaline Myopathy, Dominant; Nemaline myopathy 6, autosomal dominant, 609273
Publications
Helen Brittain (Genomics England Curator)
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
- PMID 21109227
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- London South GLH
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Nemaline myopathy 6, autosomal dominant, OMIM:609273
- Tags
- OMIM
- 613727
- Clinvar variants
- Variants in KBTBD13
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: KBTBD13 were changed from Nemaline Myopathy, Dominant; Nemaline myopathy 6, autosomal dominant, 609273 to Nemaline myopathy 6, autosomal dominant, OMIM:609273
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to KBTBD13.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London South GLH was added to KBTBD13. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Helen Brittain (Genomics England Curator)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.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for KBTBD13 were set to 21109227
Added New Source
Eik Haraldsdottir (Genomics England)KBTBD13 was added to Congenital myopathypanel. Sources: Expert
Added New Source
GEL ()KBTBD13 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()KBTBD13 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()KBTBD13 was added to Congenital myopathypanel. Sources: UKGTN