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| Cholestasis v1.110 | PEX6 | Sarah Leigh edited their review of gene: PEX6: Added comment: 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).; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.15 | PEX6 | Ivone Leong Marked gene: PEX6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.15 | PEX6 | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green based on unpublished data from patient cohort from USA (2,000 patients at Emory) that this is one of the Zellweger genes with significant prevalence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.15 | PEX6 | Ivone Leong Gene: pex6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.10 | PEX6 |
Ivone Leong Source Other was added to PEX6. Mode of inheritance for gene PEX6 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 4A (Zellweger) 614862 for gene: PEX6 Publications for gene PEX6 were changed from to 10408779; 8670792; 8940266 |
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| Cholestasis v0.4 | PEX6 |
Ivone Leong Source Expert Review Green was added to PEX6. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cholestasis v0.3 | PEX6 | Ivone Leong reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.2 | PEX6 |
Ivone Leong gene: PEX6 was added gene: PEX6 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: PEX6 was set to |
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