1. Genes and Genomic Entities
  2. CAVIN1

CAVIN1

caveolae associated protein 1
OMIM: 603198, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red CAVIN1 in Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.23

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Lipodystrophy, congenital generalized, type 4 613327
Green CAVIN1 in Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.17

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, congenital generalized, type 4, 613327
Green CAVIN1 in Lipodystrophy - childhood onset


Version 4.50
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, congenital generalized, type 4, 613327
No list CAVIN1 in Monogenic diabetes


Version 2.58
Latest signed off version: v2.2 (25 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Lipodystrophy, congenital generalized, type 4, 613327
Tags
  • curated_removed
Green CAVIN1 in Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.23
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lipodystrophy, congenital generalized, type 4, OMIM:613327
    Red CAVIN1 in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE Additional Gene List
    Phenotypes
    • Lipodystrophy, congenital generalized, type 4 613327
    Green CAVIN1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lipodystrophy, congenital generalized, type 4, 613327