STAC3

SH3 and cysteine rich domain 3
OMIM: 615521
PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, Baily-Bloch, 255995
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, Baily-Bloch, 255995
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, Baily-Bloch, OMIM:255995, Bailey-Bloch congenital myopathy, MONDO:0009722
R-numbers: R371
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia, Myopathy, congenital, Baily-Bloch, OMIM:255995