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Peroxisomal disorders v1.18 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 pathogenicity: Other; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Peroxisomal disorders PEX19 Sarah Leigh classified PEX19 as green
Peroxisomal disorders PEX19 Sarah Leigh edited their review of PEX19
Peroxisomal disorders PEX11B Sarah Leigh classified PEX11B as green
Peroxisomal disorders PEX11B Sarah Leigh edited their review of PEX11B
Peroxisomal disorders PEX11B Sarah Leigh edited their review of PEX11B
Peroxisomal disorders PEX19 Sarah Leigh commented on PEX19
Peroxisomal disorders PEX19 Sarah Leigh classified PEX19 as amber
Peroxisomal disorders PEX19 Sarah Leigh reviewed PEX19
Peroxisomal disorders PEX11B Sarah Leigh edited their review of PEX11B
Peroxisomal disorders PEX14 Sarah Leigh edited their review of PEX14
Peroxisomal disorders PEX16 Sarah Leigh edited their review of PEX16
Peroxisomal disorders PEX16 Sarah Leigh edited their review of PEX16
Peroxisomal disorders PEX16 Sarah Leigh commented on PEX16
Peroxisomal disorders PEX13 Sarah Leigh reviewed PEX13
Peroxisomal disorders PEX1 Sarah Leigh commented on PEX1
Peroxisomal disorders PEX13 Sarah Leigh commented on PEX13
Peroxisomal disorders PEX14 Ian Berry reviewed PEX14
Peroxisomal disorders PEX19 Ian Berry reviewed PEX19
Peroxisomal disorders PEX13 Ian Berry reviewed PEX13
Peroxisomal disorders PEX16 Ian Berry reviewed PEX16
Peroxisomal disorders PEX12 Ian Berry reviewed PEX12
Peroxisomal disorders PEX10 Ian Berry reviewed PEX10
Peroxisomal disorders PEX1 Ian Berry reviewed PEX1
Peroxisomal disorders PEX19 Sarah Leigh classified PEX19 as red
Peroxisomal disorders PEX19 Sarah Leigh reviewed PEX19
Peroxisomal disorders PEX11B Sarah Leigh edited their review of PEX11B
Peroxisomal disorders PEX11B Sarah Leigh commented on PEX11B
Peroxisomal disorders PEX14 Sarah Leigh classified PEX14 as green
Peroxisomal disorders PEX14 Sarah Leigh commented on PEX14
Peroxisomal disorders PEX12 Ellen McDonagh reviewed PEX12
Peroxisomal disorders PEX10 Ellen McDonagh reviewed PEX10
Peroxisomal disorders PEX1 Ellen McDonagh reviewed PEX1