Description
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.

3 reviewers

  • 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

16 Entities

6 reviewed, 1 green

List Entity Reviews Mode of inheritance Details
16 Entitiess
Green Green List (high evidence)
DYM
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Dyggve-Melchior-Clausen disease, 223800
  • Smith-McCort dysplasia, 607326
Tags
Amber Amber List (moderate evidence)
AMACR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alpha-methylacyl-CoA racemase deficiency, 614307
  • Alpha-Methylacyl-CoA Racemase Deficiency
Tags
Amber Amber List (moderate evidence)
HSD17B4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • D-bifunctional protein deficiency, 261515
  • Perrault syndrome 1, 233400
  • Peroxisomal Bifunctional Enzyme Deficiency
Tags
Amber Amber List (moderate evidence)
TRIM37
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mulibrey nanism, 253250
  • Mulibrey Nanism
Tags
Red Red List (low evidence)
ABCD1
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Peroxisomal (other)
Tags
Red Red List (low evidence)
ACOX1
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency, 264470
Tags
Red Red List (low evidence)
AGK
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperoxaluria, primary, type 1, 259900
Tags
Red Red List (low evidence)
AGPS
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Peroxisomal (other)
Tags
Red Red List (low evidence)
AGXT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Primary Hyperoxaluria
Tags
Red Red List (low evidence)
CAT
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Acatalasemia, 614097
Tags
Red Red List (low evidence)
CBS
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Acatalasemia, 614097
Tags
Red Red List (low evidence)
DNM1L
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388
Tags
Red Red List (low evidence)
GRHPR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Primary Hyperoxaluria
Tags
Red Red List (low evidence)
HOGA1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Primary Hyperoxaluria
Tags
Red Red List (low evidence)
NSDHL
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Peroxisomal (other)
Tags
Red Red List (low evidence)
PHYH
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Peroxisomal (other)
Tags

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