CAV1

caveolin 1
OMIM: 601047, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red CAV1 in Familial Meniere Disease Level 3: Other hearing and ear disorders Level 2: Hearing and ear disorders Version 1.4	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 1.23	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 1.18	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 Level 2: Endocrinology Version 4.67 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 Level 2: Endocrinology Version 3.10 Latest signed off version: v3.0 (30 Apr 2025)	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 2: Respiratory Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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