STAC3:Ensemblv115

SH3 and cysteine rich domain 3
OMIM: 615521, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green STAC3 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myopathy, congenital, Baily-Bloch, MIM# 255995

Green STAC3 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Congenital myopathy 13 (MIM#255995)

Green STAC3 in Malignant Hyperthermia Susceptibility


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myopathy, congenital, Baily-Bloch MIM#255995