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 Exclusion criteria: Prior Genetic Testing: Results should have been reviewed for all genetic tests undertaken. This includes review of available exome sequencing data, but where this is the case can be limited to genes specified within disease-relevant in silico panels. The patient is not eligible if a pathogenic variant has been identified in any gene related to their phenotype. Standard local genetic testing and nationally commissioned testing for this phenotype should have been completed AND Testing should be undertaken for any individual gene for which diagnostic yield is >10% for this phenotype AND The following specific gene tests are advised as a means of limiting the re- discovery of recognised pathogenic variants that could be more efficiently identified through the existing catalogue of UKGTN tests: - Genetic testing completed for relevant known inborn errors of metabolism 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
Sarah Leigh (Genomics England Curator)
Group: Other
Workplace: Other
List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Green List (high evidence) |
DYM |
1 review1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Amber List (moderate evidence) |
AMACR |
1 review1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Amber List (moderate evidence) |
HSD17B4 |
1 review1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Amber List (moderate evidence) |
TRIM37 |
1 review |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
ABCD1 |
1 review1 red |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
ACOX1 |
0 reviews |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
AGK |
0 reviews |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
AGPS |
0 reviews |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
AGXT |
0 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
CAT |
0 reviews |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
CBS |
1 review |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
DNM1L |
0 reviews |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
GRHPR |
0 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
HOGA1 |
0 reviews |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
NSDHL |
0 reviews |
Not set |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
PHYH |
0 reviews |
Not set |
Sources
Phenotypes
Tags |