PanelApp
  1. Genes and Genomic Entities
  2. CAVIN1

CAVIN1

caveolae associated protein 1
OMIM: 603198, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green CAVIN1 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.25

1 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 1.3499

1 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 1.108

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  2 reviews 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 0.110

    		0 reviews 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

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Lipodystrophy, congenital generalized, type 4

    Red CAVIN1 in Fetal anomalies


    Version 1.465

    		1 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 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Lipodystrophy, congenital generalized, type 4, MIM# 613327
    • MONDO:0013225

    Green CAVIN1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Lipodystrophy, congenital generalized, type 4, MIM# 613327
    Tags
    • treatable
    • endocrine