Description
Eligibility statement for Vici Syndrome and other autophagy disorders (11051):

Vici Syndrome and other autophagy disorders inclusion criteria (29390)
- at least 3 major criteria below OR
- at least 1 major criteria and 3 minor criteria below OR
- vacuolar myopathy and any other criterion (major or minor)

- Major criteria
  - Agenesis of the corpus callosum
  - Cataracts
  - Cardiomyopathy
  - Hypopigmentation
  - Combined immunodeficiency

- Minor criteria
  - Microcephaly
  - Sensorineural deafness
  - Failure to thrive
  - Myopathy
  - Neuropathy
  - Movement disorder

Prior genetic testing guidance (29390)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing. 

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Vici Syndrome and other autophagy disorders prior genetic testing genes (29390)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 -	Genome-wide copy number variation testing (e.g. aCGH, SNP array or other genomic microarray)

Closing statement (29390)
These requirements will be kept under continual review during the main programme and may be subject to change.

4 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Helen Savage (Congenica Ltd)

    Group: Other biotech or pharmaceutical
    Workplace: Other clinical service

  • Tom Cullup (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Olivia Niblock (Genomics England Curator)

    Group: Other
    Workplace: Other

12 Entities

12 reviewed, 11 green

List Entity Reviews Mode of inheritance Details
12 Entitiess
Green Green List (high evidence)
AP1S1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MEDNIK syndrome
  • mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome
Tags
  • founder-effect
Green Green List (high evidence)
AP3B1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hermansky-Pudlak syndrome 2
Tags
  • founder-effect
Green Green List (high evidence)
EPG5
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Vici syndrome, 242840
  • IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Tags
Green Green List (high evidence)
LAMP2
2 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Danon disease
Tags
Green Green List (high evidence)
LYST
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • chediak-higashi syndrome
Tags
Green Green List (high evidence)
MLPH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Griscelli syndrome 3
Tags
Green Green List (high evidence)
MYO5A
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Griscelli syndrome 1
Tags
Green Green List (high evidence)
RAB27A
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Griscelli syndrome 2
  • Elejalde syndrome
  • Griscelli syndrome, type 2 (OMIM)
Tags
  • deletions
Green Green List (high evidence)
SIL1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Marinesco-sjoegren syndrome (wuth phenotypical overlap with Vici syndrome)
Tags
  • deletions
Green Green List (high evidence)
SNAP29
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CEDNIK
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Tags
Green Green List (high evidence)
VPS13B
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cohen syndrome
Tags
Amber Amber List (moderate evidence)
CTDP1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital cataracts, facial dysmorphism, and neuropathy syndrome
Tags
  • founder-effect

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