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Research panel - Severe Paediatric Disorders

Gene: CAV3

Green List (high evidence)
CAV3 (caveolin 3)
EnsemblGeneIds (GRCh38): ENSG00000182533
EnsemblGeneIds (GRCh37): ENSG00000182533
OMIM: 601253, Gene2Phenotype
CAV3 is in 12 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
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

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CAV3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CAV3 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: CAV3

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: CAV3

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: CAV3

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Creatine phosphokinase, elevated serum, 123320; Rippling muscle disease 2, 606072; Myopathy, distal, Tateyama type, 614321; Long QT syndrome 9, 611818; Cardiomyopathy, familial hypertrophic, 192600 for gene: CAV3

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to CAV3.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CAV3. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CAV3 was added gene: CAV3 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CAV3 was set to