Description
This is a combined panel for Peroxisomal disorders. 

This includes the disorders: 
- Peroxisomal biogenesis disorders
- Other peroxisomal disorders

See individual eligibility statements for these disorders, available here: https://www.genomicsengland.co.uk/information-for-gmc-staff/rare-disease-documents/

5 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Helen Savage (Congenica Ltd)

    Group: Other biotech or pharmaceutical
    Workplace: Other clinical service

  • Ian Berry (Leeds Genetics Laboratory)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

37 Entities

37 reviewed, 34 green

List Entity Reviews Mode of inheritance Details
37 Entitiess
Green Green List (high evidence)
ABCD1
4 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Adrenoleukodystrophy 300100
Tags
  • gene-therapy-trial
Green Green List (high evidence)
ACOX1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency 264470
Tags
Green Green List (high evidence)
AGK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Sengers syndrome 212350
Tags
Green Green List (high evidence)
AGPS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 3 600121
Tags
Green Green List (high evidence)
AGXT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperoxaluria, primary, type 1 259900
Tags
Green Green List (high evidence)
AMACR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Alpha-methylacyl-CoA racemase deficiency 614307
Tags
Green Green List (high evidence)
ARSE
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Chondrodysplasia punctata, X-linked recessive 302950
Tags
  • new-gene-name
Green Green List (high evidence)
CAT
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • Acatalasemia, 614097
Tags
Green Green List (high evidence)
DNM1L
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 614388
Tags
Green Green List (high evidence)
DYM
1 review
1 green
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
Green Green List (high evidence)
EBP
2 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Chondrodysplasia punctata, X-linked dominant 302960 XLD
  • MEND syndrome 300960 XLR
Tags
Green Green List (high evidence)
FAR1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder 616154
Tags
Green Green List (high evidence)
GNPAT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 2 222765
Tags
Green Green List (high evidence)
GRHPR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperoxaluria, primary, type II 260000
Tags
Green Green List (high evidence)
HOGA1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hyperoxaluria, primary, type III 613616
Tags
Green Green List (high evidence)
HSD17B4
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • D-bifunctional protein deficiency, 261515
Tags
Green Green List (high evidence)
NSDHL
2 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • CHILD syndrome 308050 XLD
  • CK syndrome 300831 XLR
Tags
Green Green List (high evidence)
PEX1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 1A (Zellweger) 214100
  • Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
Tags
Green Green List (high evidence)
PEX10
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 6A (Zellweger) 614870
  • Peroxisome biogenesis disorder 6B 614871
Tags
Green Green List (high evidence)
PEX11B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 14B 614920
Tags
Green Green List (high evidence)
PEX12
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 3A (Zellweger), 614859
  • Peroxisome biogenesis disorder 3B 266510
Tags
Green Green List (high evidence)
PEX13
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 11A (Zellweger) 614883
  • Peroxisome biogenesis disorder 11B 614885
Tags
Green Green List (high evidence)
PEX14
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 13A (Zellweger) 614887
Tags
Green Green List (high evidence)
PEX16
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 8A, (Zellweger), 614876
  • Zellweger Syndrome
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
  • Peroxisomal biogenesis disorders
Tags
Green Green List (high evidence)
PEX19
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 12A (Zellweger) 614886
Tags
Green Green List (high evidence)
PEX2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 5A (Zellweger), 614866
  • Peroxisome biogenesis disorder 5B, 614867
Tags
Green Green List (high evidence)
PEX26
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) 61487
  • Peroxisome biogenesis disorder 7B 614873
Tags
Green Green List (high evidence)
PEX3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger) 614882
Tags
Green Green List (high evidence)
PEX5
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger) 214110
  • Peroxisome biogenesis disorder 2B 202370
Tags
Green Green List (high evidence)
PEX6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 4A (Zellweger) 614862
  • Peroxisome biogenesis disorder 4B 614863
Tags
Green Green List (high evidence)
PEX7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Peroxisome biogenesis disorder 9B 614879
  • Rhizomelic chondrodysplasia punctata, type 1 215100
Tags
Green Green List (high evidence)
PHYH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Refsum disease, 266500
Tags
Green Green List (high evidence)
SCP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Leukoencephalopathy with dystonia and motor neuropathy 613724
Tags
Green Green List (high evidence)
TRIM37
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mulibrey nanism 253250
Tags
Red Red List (low evidence)
ABCD3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Bile acid synthesis defect, congenital, 5 616278
Tags
Red Red List (low evidence)
CBS
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types 236200
  • Thrombosis, hyperhomocysteinemic 236200
Tags
Red Red List (low evidence)
IDH1
1 review
1 red
Unknown
Sources
  • Other
Tags

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