Muscular dystrophy and myopathy_Paediatric
Gene: KBTBD13EnsemblGeneIds (GRCh38): ENSG00000234438
EnsemblGeneIds (GRCh37): ENSG00000234438
OMIM: 613727, Gene2Phenotype
KBTBD13 is in 6 panels
2 reviews
Sangavi Sivagnanasundram (Melbourne Health)
PMID: 21104864; 11731279; 21109227
4 individuals from unrelated families with clinical features consistent with nemaline myopathy
(articles reference the gene NEM6 - previous name)
Sources: OtherCreated: 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)
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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: kbtbd13 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: kbtbd13 has been classified as Green List (High Evidence).
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