1. Genes and Genomic Entities
  2. CAV1

CAV1

caveolin 1
OMIM: 601047, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red CAV1 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3

review Not set
Sources
  • Literature
Red CAV1 in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.21

Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Lipodystrophy, congenital generalized, type 3, 612526
    • Pulmonary hypertension, primary, 3, 615343
    Red CAV1 in Insulin resistance (including lipodystrophy)

    Level 3: Disorders of unusual phenotypes
    Level 2: Endocrine disorders
    Version 1.16

    		review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Lipodystrophy, congenital generalized, type 3, 612526
    • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 606721
    Green CAV1 in Lipodystrophy - childhood onset


    Version 4.50
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • ?Lipodystrophy, congenital generalized, type 3, 612526
    • Lipodystrophy, familial partial, type 7, 606721
    Red CAV1 in Monogenic diabetes


    Version 2.57
    Latest signed off version: v2.2 (25 Feb 2020)

    		review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Lipodystrophy, congenital generalized, type 3, 612526
    • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
    Amber CAV1 in Pulmonary arterial hypertension

    Level 3: Pulmonary heart disease
    Level 2: Cardiovascular disorders
    Version 3.5
    Latest signed off version: v3.0 (30 Nov 2022)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Expert Review Amber
    • Literature
    Phenotypes
    • Pulmonary hypertension, primary, 3, 615343
    • Heritable pulmonary arterial hypertension
    • HPAH
    • Pulmonary arterial hypertension
    Red CAV1 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 3 612526