Additional findings_Paediatric
Gene: STAC3

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

1 review

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, 9:34 a.m. | Last Modified: 16 Oct 2020, 9:34 a.m.

Panel Version: 0.131

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, congenital, Baily-Bloch, MIM# 255995

Publications

Created: 16 Oct 2020, 9:34 a.m.
Last Modified: 16 Oct 2020, 9:34 a.m.
Panel version: 0.131

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
BabySeq Category C gene

Phenotypes

Myopathy, congenital, Baily-Bloch, MIM# 255995

OMIM

615521

Clinvar variants

Variants in STAC3

Penetrance

None

Publications

Panels with this gene