1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. KBTBD13
STRs in panel
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Congenital muscular dystrophy and congenital myopathy

Gene: KBTBD13

Green List (high evidence)
KBTBD13 (kelch repeat and BTB domain containing 13)
EnsemblGeneIds (GRCh38): ENSG00000234438
EnsemblGeneIds (GRCh37): ENSG00000234438
OMIM: 613727, Gene2Phenotype
KBTBD13 is in 6 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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.
Created: 30 Apr 2019, 10:09 a.m.

Copied from panel: Congenital myopathy v3.50

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

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

Created: 30 Apr 2019, 10:05 a.m.

Copied from panel: Congenital myopathy v3.50

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Nemaline Myopathy, Dominant; Nemaline myopathy 6, autosomal dominant, 609273

Publications

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.50

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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

Created: 26 Jan 2017, 10:50 a.m.

Copied from panel: Congenital myopathy v3.50

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • UKGTN
  • NHS GMS
  • Expert
Phenotypes
  • Nemaline myopathy 6, autosomal dominant, OMIM:609273
Tags
missense
OMIM
613727
Clinvar variants
Variants in KBTBD13
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 3

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Arina Puzriakova (Genomics England Curator)

gene: KBTBD13 was added gene: KBTBD13 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert,NHS GMS,UKGTN,Expert Review Green,Radboud University Medical Center, Nijmegen,London South GLH,Illumina TruGenome Clinical Sequencing Services missense tags were added to gene: KBTBD13. Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KBTBD13 were set to 21109227 Phenotypes for gene: KBTBD13 were set to Nemaline myopathy 6, autosomal dominant, OMIM:609273 Penetrance for gene: KBTBD13 were set to Complete