Muscular dystrophy and myopathy_Paediatric
Gene: KBTBD13
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
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
Gene: kbtbd13 has been classified as Green List (High Evidence).
Gene: kbtbd13 has been classified as Green List (High Evidence).
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