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DDG2P

Gene: CAV1

Red List (low evidence)

CAV1 (caveolin 1)
EnsemblGeneIds (GRCh38): ENSG00000105974
EnsemblGeneIds (GRCh37): ENSG00000105974
OMIM: 601047, Gene2Phenotype
CAV1 is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 3 612526
OMIM
601047
Clinvar variants
Variants in CAV1
Penetrance
None
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: CAV1 was added gene: CAV1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CAV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAV1 were set to CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 3 612526