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Severe Paediatric Disorders

Gene: CAV3

Green List (high evidence)

CAV3 (caveolin 3)
EnsemblGeneIds (GRCh38): ENSG00000182533
EnsemblGeneIds (GRCh37): ENSG00000182533
OMIM: 601253, Gene2Phenotype
CAV3 is in 13 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CAV3; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cardiomyopathy, familial hypertrophic, 192600 (3) | Creatine phosphokinase, elevated serum, 123320 (3) | Long QT syndrome 9, 611818 (3) | Myopathy, distal, Tateyama type, 614321 (3) | Rippling muscle disease 2, 606072 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, distal, Tateyama type, 614321
  • Long QT syndrome 9, 611818
  • Creatine phosphokinase, elevated serum, 123320
  • Cardiomyopathy, familial hypertrophic, 192600
  • Rippling muscle disease 2, 606072
OMIM
601253
Clinvar variants
Variants in CAV3
Penetrance
None
Publications
Panels with this gene