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 1.1

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 1.14

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 1.12

    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 2.15
    Latest signed off version: v2.4 (19 Feb 2020)

    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 2.42
    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 2.13
    Latest signed off version: v2.2 (2 Mar 2020)

    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 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    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