This panel is NO LONGER ACTIVELY MAINTAINED. Please use with caution, as the gene list has not been recently updated. Reviews added to this panel are no longer a priority for curation and may not be followed up. Please consider using an NHS Genomic Medicine Service (GMS) panel instead. The full list of GMS panels can be found here: https://nhsgms-panelapp.genomicsengland.co.uk/panels, with links back to PanelApp should you wish to leave a review on the panel. ----- 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.
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
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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12 Entitiess
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AP1S1 |
2 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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AP3B1 |
2 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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EPG5 |
3 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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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
Phenotypes
Tags |
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LYST |
2 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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MLPH |
1 review |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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MYO5A |
2 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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RAB27A |
2 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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SIL1 |
2 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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SNAP29 |
2 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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VPS13B |
2 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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CTDP1 |
2 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.