CAV1

caveolin 1
OMIM: 601047, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green CAV1 in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green 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 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green 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 Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Phenotypes Pulmonary hypertension, primary, 3, MIM# 615343 Lipodystrophy, familial partial, type 7, MIM# 606721
Green CAV1 in Monogenic Diabetes Level 2: Endocrine disorders Version 1.0	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital generalized lipodystrophy type 3, MONDO:0012923
Green CAV1 in Pulmonary Arterial Hypertension Level 2: Cardiovascular disorders Version 2.0	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 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Lipodystrophy, congenital generalized, type 3, MIM# 612526 Tags treatable metabolic