Description
Inclusion criteria:
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.

2 reviewers

  • Helen Savage (Congenica Ltd)

    Group: Other biotech or pharmaceutical
    Workplace: Other clinical service

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

21 genes

3 reviewed, 13 green

List Gene Reviews Mode of inheritance Details
21 genes
Green Green List (high evidence)
PEX1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 1A (Zellweger), 214100
  • Zellweger Syndrome
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX1-related
  • Refsum Disease, Infantile
  • Zellweger Syndrome, ZS
  • Adrenoleukodystrophy, Autosomal Neonatal Form
  • Peroxisomal biogenesis disorders
Green Green List (high evidence)
PEX10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 6A (Zellweger), 614870
  • Zellweger Syndrome
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
  • Refsum Disease, Infantile
  • Zellweger Syndrome, ZS
  • Adrenoleukodystrophy, Autosomal Neonatal Form
  • Peroxisomal biogenesis disorders
Green Green List (high evidence)
PEX12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 3A (Zellweger), 614859
  • Zellweger Syndrome
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX12-related
  • Refsum Disease, Infantile
  • Zellweger Syndrome, ZS
  • Adrenoleukodystrophy, Autosomal Neonatal Form
  • Peroxisomal biogenesis disorders
Green Green List (high evidence)
PEX13
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Peroxisome biogenesis disorder 11A (Zellweger), 614883
  • Zellweger Syndrome
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
  • Peroxisomal biogenesis disorders
Green Green List (high evidence)
PEX14
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 14B, 614920
  • Peroxisome biogenesis disorder 13A (Zellweger), 614887
  • Zellweger Syndrome
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX14-related
  • Peroxisomal biogenesis disorders
Green Green List (high evidence)
PEX16
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Peroxisome biogenesis disorder 8A, (Zellweger), 614876
  • Zellweger Syndrome
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
  • Peroxisomal biogenesis disorders
Green Green List (high evidence)
PEX19
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 12A (Zellweger), 614886
  • Zellweger Syndrome
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
  • Peroxisomal biogenesis disorders
Green Green List (high evidence)
PEX2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Peroxisome biogenesis disorder 5A (Zellweger), 614866
  • Peroxisome biogenesis disorder 5B, 614867
  • Zellweger Syndrome
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX2-related
  • Peroxisomal biogenesis disorders
Green Green List (high evidence)
PEX26
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) 614872
  • Peroxisome biogenesis disorder 7B 614873
Green Green List (high evidence)
PEX3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger), 614882
  • Zellweger Syndrome
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX3-related
  • Peroxisomal biogenesis disorders
Green Green List (high evidence)
PEX5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger), 214110
  • Zellweger Syndrome
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX5-related
Green Green List (high evidence)
PEX6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Peroxisome biogenesis disorder 4A (Zellweger), 614862
  • Zellweger Syndrome
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX6-related
  • Refsum Disease, Infantile
  • Zellweger Syndrome, ZS
  • Adrenoleukodystrophy, Autosomal Neonatal Form
  • Peroxisomal biogenesis disorders
Green Green List (high evidence)
PEX7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 1, 215100
  • Peroxisome biogenesis disorder 9B, 614879
  • Refsum Disease
  • Rhizomelic Chondrodysplasia Punctata
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
  • Rhizomelic Chondrodysplasia Punctata, Type 1
  • RCDP1
  • Peroxisomal biogenesis disorders
Amber Amber List (moderate evidence)
AGPS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Rhizomelic Chondrodysplasia Punctata
  • Rhizomelic Chondrodysplasia Punctata, Type 3
  • RCDP3
Amber Amber List (moderate evidence)
GNPAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Rhizomelic Chondrodysplasia Punctata
  • Rhizomelic Chondrodysplasia Punctata, Type 2
  • RCDP2
Amber Amber List (moderate evidence)
PEX11B
0 reviews
Not set
Sources
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 14B, 614920
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
  • Peroxisomal biogenesis disorders
Amber Amber List (moderate evidence)
PHYH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Refsum disease, 266500
  • Refsum Disease
Red Red List (low evidence)
ABCD1
1 review
1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Adrenoleukodystrophy, X-linked
Red Red List (low evidence)
ACOX1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Pseudoneonatal Adrenoleukodystrophy
Red Red List (low evidence)
ARSE
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Chondrodysplasia Punctata 1, X-Linked Recessive
  • CDPX1
Red Red List (low evidence)
EBP
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Chondrodysplasia Punctata 2, X-Linked Dominant
  • CDPX2

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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