VCL

vinculin
OMIM: 193065, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber VCL in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Alder Hey - Erasmus MC
Phenotypes
  • susceptibility to Hirschsprung disease
  • short-segment Hirschsprung disease (S-HSCR)
Tags
  • watchlist

Red VCL in Hypertrophic cardiomyopathy - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.41
Latest signed off version: v2.11 (15 Oct 2020)

Component of the following Super Panels:

  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • North West GLH
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cardiomyopathy, dilated, 1W (611407)
    • Cardiomyopathy, familial hypertrophic, 15,
    • Cardiomyopathy, hypertrophic, 15 (613255)

    Green VCL in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.78

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • London South GLH
    • North West GLH
    • Expert Review Green
    • UKGTN
    • Expert list
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Cardiomyopathy, dilated, 1W (611407)
    • Cardiomyopathy, hypertrophic, 15 (613255)
    • Cardiomyopathy, dilated, 1W

    Green VCL in Dilated cardiomyopathy - adult and teen

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.31
    Latest signed off version: v1.6 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • UKGTN
    • South West GLH
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • London South GLH
    • North West GLH
    • Expert list
    • Emory Genetics Laboratory
    • South West GLH
    • London South GLH
    • North West GLH
    Phenotypes
    • Cardiomyopathy, dilated, 1W
    • Cardiomyopathy, dilated, 1W (611407)
    • Cardiomyopathy, hypertrophic, 15 (613255)

    Red VCL in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.454

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy

    Green VCL in Cardiomyopathies - including childhood onset


    Version 1.77
    Latest signed off version: v1.4 (19 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Green
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 15,
    • Cardiomyopathy, dilated, 1W

    Red VCL in Hereditary neuropathy NOT PMP22 copy number


    Version 1.103
    Latest signed off version: v1.36 (5 Aug 2021)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy