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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 v1.31 | PEX14 | Ivone Leong Classified gene: PEX14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.31 | PEX14 | Ivone Leong Gene: pex14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.30 | PEX14 | Ivone Leong Publications for gene: PEX14 were set to 21686775; 18285423 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.29 | PEX14 | Ivone Leong Phenotypes for gene: PEX14 were changed from Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887 to Peroxisome biogenesis disorder 13A (Zellweger), 614887 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.16 | PEX14 |
Zornitza Stark gene: PEX14 was added gene: PEX14 was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX14 were set to 21686775; 18285423 Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887 Review for gene: PEX14 was set to AMBER Added comment: Two cases reported with cholestasis. Sources: Expert list |
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| Cholestasis v0.15 | PEX12 | Ivone Leong Marked gene: PEX12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.15 | PEX12 | Ivone Leong Gene: pex12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.15 | PEX1 | Ivone Leong Marked gene: PEX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.15 | PEX1 | 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 | PEX1 | Ivone Leong Gene: pex1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.10 | PEX12 |
Ivone Leong Source Other was added to PEX12. Mode of inheritance for gene PEX12 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 3B 266510; Peroxisome biogenesis disorder 3A (Zellweger) 614859 for gene: PEX12 Publications for gene PEX12 were changed from to 9090384; 9354782 |
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| Cholestasis v0.10 | PEX1 |
Ivone Leong Source Other was added to PEX1. Mode of inheritance for gene PEX1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome Biogenesis Disorder 1A (Zellweger), 214100; Zellweger syndrome; Neonatal and Adult Cholestasis for gene: PEX1 Publications for gene PEX1 were changed from to 9398848; 22871920; 9398847 |
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| Cholestasis v0.4 | PEX12 |
Ivone Leong Source Expert Review Green was added to PEX12. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cholestasis v0.4 | PEX1 |
Ivone Leong Source Expert Review Green was added to PEX1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cholestasis v0.3 | PEX12 | Ivone Leong reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.3 | PEX1 | Ivone Leong reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.2 | PEX12 |
Ivone Leong gene: PEX12 was added gene: PEX12 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: PEX12 was set to |
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| Cholestasis v0.2 | PEX1 |
Ivone Leong gene: PEX1 was added gene: PEX1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: PEX1 was set to |
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