MYBPC2:Ensemblv90

myosin binding protein C, fast type
OMIM: 160793, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red MYBPC2 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Fetal akinesia
  • Hydrops
  • Hygroma
  • Multiple pterygium

Red MYBPC2 in Multiple pterygium syndrome_Fetal akinesia sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.5

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Fetal akinesia
  • Hydrops
  • Hygroma
  • Multiple pterygium

Red MYBPC2 in Fetal anomalies


Version 1.482

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Hydrops
  • Hygroma
  • Fetal akinesia
  • Multiple pterygium

Red MYBPC2 in Multiple pterygium syndrome_Fetal akinesia sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Fetal akinesia
  • Hydrops
  • Hygroma
  • Multiple pterygium