1. Panels
  2. Pulmonary Arterial Hypertension
  3. CAV1
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Pulmonary Arterial Hypertension

Gene: CAV1

Green List (high evidence)
CAV1 (caveolin 1)
EnsemblGeneIds (GRCh38): ENSG00000105974
EnsemblGeneIds (GRCh37): ENSG00000105974
OMIM: 601047, Gene2Phenotype
CAV1 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen.
Created: 8 Aug 2023, 4:54 a.m. | Last Modified: 8 Aug 2023, 4:54 a.m.
Panel Version: 1.19

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pulmonary hypertension, primary, 3 MIM#615343

Created: 8 Aug 2023, 4:54 a.m.
Last Modified: 8 Aug 2023, 4:54 a.m.
Panel version: 1.19

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Heterozygous variants cause PAH
Created: 23 Jan 2020, 12:17 a.m. | Last Modified: 23 Jan 2020, 12:17 a.m.
Panel Version: 0.9
Sources: Expert list
Created: 23 Jan 2020, 12:16 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Pulmonary hypertension, primary, 3 MIM#615343

Created: 23 Jan 2020, 12:16 a.m.

Panel version: 0.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pulmonary hypertension, primary, 3 MIM#615343
OMIM
601047
Clinvar variants
Variants in CAV1
Penetrance
None
Panels with this gene

History Filter Activity

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cav1 has been classified as Green List (High Evidence).

23 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cav1 has been classified as Green List (High Evidence).

23 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CAV1 was added gene: CAV1 was added to Pulmonary Arterial Hypertension. Sources: Expert list Mode of inheritance for gene: CAV1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CAV1 were set to Pulmonary hypertension, primary, 3 MIM#615343 Review for gene: CAV1 was set to GREEN