CAVIN1

caveolae associated protein 1
OMIM: 603198, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green CAVIN1 in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.17	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lipodystrophy, congenital generalized, type 4, MIM# 613327 MONDO:0013225 Tags treatable
Green CAVIN1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lipodystrophy, congenital generalized, type 4, MIM# 613327 MONDO:0013225 Tags treatable
Green CAVIN1 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Phenotypes Lipodystrophy, congenital generalized, type 4 (MIM#613327) Tags treatable
Green CAVIN1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lipodystrophy, congenital generalized, type 4, 613327 (3)
Green CAVIN1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Lipodystrophy, congenital generalized, type 4
Red CAVIN1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Lipodystrophy, congenital generalized, type 4 , MIM# 613327
Green CAVIN1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lipodystrophy, congenital generalized, type 4, 613327 (3)
Green CAVIN1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Lipodystrophy, congenital generalized, type 4, MIM# 613327 Tags treatable endocrine