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| Likely inborn error of metabolism - targeted testing not possible v2.238 | PEX6 | Sarah Leigh commented on gene: PEX6: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | PEX19 |
Ivone Leong Source NHS GMS was added to PEX19. Source London North GLH was added to PEX19. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | PEX16 |
Ivone Leong Source NHS GMS was added to PEX16. Source London North GLH was added to PEX16. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | PEX14 |
Ivone Leong Source NHS GMS was added to PEX14. Source London North GLH was added to PEX14. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | PEX13 |
Ivone Leong Source NHS GMS was added to PEX13. Source London North GLH was added to PEX13. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | PEX12 |
Ivone Leong Source NHS GMS was added to PEX12. Source London North GLH was added to PEX12. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | PEX10 |
Ivone Leong Source NHS GMS was added to PEX10. Source London North GLH was added to PEX10. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | PEX1 |
Ivone Leong Source NHS GMS was added to PEX1. Source London North GLH was added to PEX1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX11A |
Ellen McDonagh gene: PEX11A was added gene: PEX11A was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PEX11A was set to Unknown Publications for gene: PEX11A were set to 25177298; 10716247; 25608554; 11839773 Phenotypes for gene: PEX11A were set to Zellweger syndrome; peroxisome proliferation; mild peroxisomal biogenesis defect |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX19 |
Ellen McDonagh gene: PEX19 was added gene: PEX19 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX19 were set to 27604308 Phenotypes for gene: PEX19 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 12A (Zellweger) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX16 |
Ellen McDonagh gene: PEX16 was added gene: PEX16 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX16 were set to 27604308 Phenotypes for gene: PEX16 were set to Disorders of peroxisome biogenesis; Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum; Peroxisome biogenesis disorder 8A, (Zellweger), 614876; Peroxisomal biogenesis disorders; Zellweger Syndrome |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX14 |
Ellen McDonagh gene: PEX14 was added gene: PEX14 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX14 were set to 27604308 Phenotypes for gene: PEX14 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 13A (Zellweger) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX13 |
Ellen McDonagh gene: PEX13 was added gene: PEX13 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX13 were set to 27604308 Phenotypes for gene: PEX13 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 11A (Zellweger) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX12 |
Ellen McDonagh gene: PEX12 was added gene: PEX12 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX12 were set to 27604308 Phenotypes for gene: PEX12 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 3A (Zellweger), 614859; Peroxisome biogenesis disorder 3B |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX11B |
Ellen McDonagh gene: PEX11B was added gene: PEX11B was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX10 |
Ellen McDonagh gene: PEX10 was added gene: PEX10 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX10 were set to 27604308 Phenotypes for gene: PEX10 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 6A (Zellweger) 614870; Peroxisome biogenesis disorder 6B 614871 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PEX1 |
Ellen McDonagh gene: PEX1 was added gene: PEX1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX1 were set to 27604308 Phenotypes for gene: PEX1 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 1B (NALD/IRD) 601539; Peroxisome biogenesis disorder 1A (Zellweger) 214100 |
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