Muscular dystrophy and myopathy_Paediatric

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

PMID: 21104864; 11731279; 21109227
4 individuals from unrelated families with clinical features consistent with nemaline myopathy

(articles reference the gene NEM6 - previous name)
Sources: Other
Created: 8 May 2023, 6:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nemaline myopathy 6, autosomal dominant (MIM# 609273; MONDO:0012237)

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association of mono-allelic variants with nemaline myopathy, characterised by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Histopathologic changes seen on skeletal muscle biopsy include nemaline rods, cores devoid of oxidative enzyme activity, and predominance of hypertrophic type 1 fibers. There is no cardiac or respiratory involvement.
Created: 28 Aug 2020, 3:18 a.m. | Last Modified: 28 Aug 2020, 3:18 a.m.
Panel Version: 0.260

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nemaline myopathy 6, autosomal dominant, MIM# 609273

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Nemaline myopathy 6, autosomal dominant (MIM# 609273
  • MONDO:0012237)
OMIM
613727
Clinvar variants
Variants in KBTBD13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kbtbd13 has been classified as Green List (High Evidence).

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kbtbd13 has been classified as Green List (High Evidence).

8 May 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: KBTBD13 was added gene: KBTBD13 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KBTBD13 were set to 21104864; 11731279; 21109227 Phenotypes for gene: KBTBD13 were set to Nemaline myopathy 6, autosomal dominant (MIM# 609273; MONDO:0012237) Review for gene: KBTBD13 was set to GREEN