Peroxisomal disorders (Version 1.19)

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/

Panel Activity

8 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
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

38 Entities

38 reviewed, 35 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 38 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)	ACBD5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Retinal dystrophy with leukodystrophy, OMIM:618863 Tags
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, OMIM:264470 Tags
Green Green List (high evidence)	AGK	2 reviews 1 green 1 red	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	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM: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	2 reviews 1 red	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	2 reviews 1 red	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	3 reviews 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 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	3 reviews 2 green	BOTH monoallelic and 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 Heimler syndrome 2, OMIM:616617 Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM: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, OMIM:614879 Rhizomelic chondrodysplasia punctata, type 1, OMIM: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	3 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

Peroxisomal disorders (Version 1.19)

8 reviewers

38 Entities

38 reviewed, 35 green

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