Muscular dystrophy and myopathy_Paediatric

Gene: STAC3

Green List (high evidence)

STAC3 (SH3 and cysteine rich domain 3)
EnsemblGeneIds (GRCh38): ENSG00000185482
EnsemblGeneIds (GRCh37): ENSG00000185482
OMIM: 615521, Gene2Phenotype
STAC3 is in 8 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

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: Other
Created: 9 May 2023, 3:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy 13 (MIM#255995)

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Congenital myopathy 13 (MIM#255995)
OMIM
615521
Clinvar variants
Variants in STAC3
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: stac3 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: stac3 has been classified as Green List (High Evidence).

9 May 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

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