Mucopolysaccharideosis, Gaucher, Fabry eligibility statement: Mucopolysaccharideosis, Gaucher, Fabry inclusion criteria (29463) - Evidence of inborn error of metabolism as demonstrated by findings in at least 2 of the following areas: - Clinical presentation - Biochemical - Haematological - Radiological - Biochemical testing and genetic testing completed for relevant known inborn errors of metabolism Mucopolysaccharideosis, Gaucher, Fabry exclusion criteria (29463) Prior genetic testing guidance (29463) - 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. Mucopolysaccharideosis, Gaucher, Fabry prior genetic testing genes (29463) Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: - Genetic testing completed for relevant known inborn errors of metabolism Closing statement (29463) 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
alisdair mcneill (Sheffield childrens hospital)
Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Green List (high evidence) |
ARSB |
3 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
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Phenotypes
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| Green List (high evidence) |
GALNS |
3 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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| Green List (high evidence) |
GBA |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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| Green List (high evidence) |
GLA |
2 reviews1 green |
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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| Green List (high evidence) |
GLB1 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
GNPTAB |
3 reviews2 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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| Green List (high evidence) |
GNPTG |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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| Green List (high evidence) |
GNS |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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| Green List (high evidence) |
GUSB |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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| Green List (high evidence) |
HGSNAT |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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| Green List (high evidence) |
IDS |
2 reviews1 green |
X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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| Green List (high evidence) |
IDUA |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
MCOLN1 |
2 reviews1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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| Green List (high evidence) |
NAGLU |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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| Green List (high evidence) |
NEU1 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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| Green List (high evidence) |
PSAP |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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| Green List (high evidence) |
SGSH |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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| Red List (low evidence) |
HYAL1 |
2 reviews1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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04.03.16 Reviews evaluated and panel ready for next major version.