Genomics England
GMS Panels
Panels
Genes and Entities

STAC3

SH3 and cysteine rich domain 3
OMIM: 615521
PanelMode of inheritanceDetails
5 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, Baily-Bloch, 255995
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, Baily-Bloch, OMIM:255995
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
STAC3-associated congenital myopathy and malignant hyperthermia, OMIM:255995
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, Baily-Bloch, OMIM:255995, Bailey-Bloch congenital myopathy, MONDO:0009722
Green
in Malignant hyperthermia
R-numbers: R371
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia, Myopathy, congenital, Baily-Bloch, OMIM:255995