CAV1

caveolin 1
OMIM: 601047, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green CAV1 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Pulmonary hypertension, primary, 3, MIM# 615343 Lipodystrophy, familial partial, type 7, MIM# 606721
Green CAV1 in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.25	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721 Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526
Green CAV1 in Mendeliome Version 1.3512	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721 Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526
Red CAV1 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.152 Component of the following Super Panels: Metabolic Disorders Superpanel	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Lipodystrophy, congenital generalized, type 3, 612526 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Green CAV1 in Pulmonary Arterial Hypertension Level 2: Cardiovascular disorders Version 1.45	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Pulmonary hypertension, primary, 3 MIM#615343
Green CAV1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Lipodystrophy, congenital generalized, type 3, MIM# 612526 Tags treatable metabolic