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Arthrogryposis

Gene: CAV3

Red List (low evidence)

CAV3 (caveolin 3)
EnsemblGeneIds (GRCh38): ENSG00000182533
EnsemblGeneIds (GRCh37): ENSG00000182533
OMIM: 601253, Gene2Phenotype
CAV3 is in 12 panels

0 reviews

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Muscular dystrophy, limb-girdle, type IC, 607801Rippling muscle disease, 606072Creatine phosphokinase, elevated serum, 123320Myopathy, distal, Tateyama type, 614321Cardiomyopathy, familial hypertrophic, 192600
OMIM
601253
Clinvar variants
Variants in CAV3
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

21 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CAV3 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CAV3 was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CAV3 was added to Arthrogryposispanel. Sources: Expert list