Muscular dystrophy and myopathy_Paediatric
Gene: STAC3
Also known as Bailey-Bloch congenital myopathy and Native American myopathy (NAM)
PMID: 28411587
An individual with congenital muscle weakness and contracture and clinical phenotypes consistent with myopathy.
PMID: 28777491
3 individuals from 2 unrelated consanguineous families with clinical symptoms of myopathy.
(Note: Individuals with a mutation in STAC3 are shown to have MH susceptibility in the presence of anesthesia.)
Sources: OtherCreated: 9 May 2023, 3:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myopathy 13 (MIM#255995)
Publications
Bailey-Bloch congenital myopathy, also known as Native American myopathy (NAM), is an autosomal recessive disorder characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia. It was first reported in the Lumbee Indian tribe in North Carolina. However, more than 20 families from a broad range of ethnicities have now been reported as well.
p.(Trp284Ser) is recurrent ?founder variant.Created: 16 Oct 2020, 9:30 a.m. | Last Modified: 16 Oct 2020, 9:30 a.m.
Panel Version: 0.298
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, Baily-Bloch, MIM# 255995
Publications
Gene: stac3 has been classified as Green List (High Evidence).
Gene: stac3 has been classified as Green List (High Evidence).
gene: STAC3 was added gene: STAC3 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAC3 were set to 28411587; 28777491 Phenotypes for gene: STAC3 were set to Congenital myopathy 13 (MIM#255995) Review for gene: STAC3 was set to GREEN