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Inherited white matter disorders v1.154 PEX6 Sarah Leigh Added comment: Comment on mode of pathogenicity: Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678).
Inherited white matter disorders PEX19 Ellen Thomas classified PEX19 as amber
Inherited white matter disorders PEX19 Ellen Thomas commented on PEX19
Inherited white matter disorders PEX14 Ellen Thomas classified PEX14 as amber
Inherited white matter disorders PEX14 Ellen Thomas commented on PEX14
Inherited white matter disorders PEX19 Ellen McDonagh marked PEX19 as ready
Inherited white matter disorders PEX19 Ellen McDonagh classified PEX19 as amber
Inherited white matter disorders PEX14 Ellen McDonagh marked PEX14 as ready
Inherited white matter disorders PEX14 Ellen McDonagh classified PEX14 as amber
Inherited white matter disorders PEX16 Ellen McDonagh marked PEX16 as ready
Inherited white matter disorders PEX16 Ellen McDonagh classified PEX16 as green
Inherited white matter disorders PEX16 Ellen McDonagh commented on PEX16
Inherited white matter disorders PEX19 Ellen McDonagh classified PEX19 as amber
Inherited white matter disorders PEX19 Ellen McDonagh classified PEX19 as grey
Inherited white matter disorders PEX19 Ellen McDonagh commented on PEX19
Inherited white matter disorders PEX14 Ellen McDonagh classified PEX14 as amber
Inherited white matter disorders PEX14 Ellen McDonagh classified PEX14 as red
Inherited white matter disorders PEX14 Ellen McDonagh commented on PEX14
Inherited white matter disorders PEX13 Ellen McDonagh marked PEX13 as ready
Inherited white matter disorders PEX13 Ellen McDonagh classified PEX13 as green
Inherited white matter disorders PEX13 Ellen McDonagh classified PEX13 as grey
Inherited white matter disorders PEX13 Ellen McDonagh commented on PEX13
Inherited white matter disorders PEX12 Ellen McDonagh marked PEX12 as ready
Inherited white matter disorders PEX12 Ellen McDonagh classified PEX12 as green
Inherited white matter disorders PEX12 Ellen McDonagh commented on PEX12
Inherited white matter disorders PEX10 Ellen McDonagh marked PEX10 as ready
Inherited white matter disorders PEX10 Ellen McDonagh classified PEX10 as green
Inherited white matter disorders PEX10 Ellen McDonagh commented on PEX10
Inherited white matter disorders PEX1 Ellen McDonagh marked PEX1 as ready
Inherited white matter disorders PEX1 Ellen McDonagh classified PEX1 as green
Inherited white matter disorders PEX1 Ellen McDonagh classified PEX1 as grey
Inherited white matter disorders PEX1 Ellen McDonagh commented on PEX1
Inherited white matter disorders PEX19 Ian Berry reviewed PEX19
Inherited white matter disorders PEX16 Ian Berry edited their review of PEX16
Inherited white matter disorders PEX16 Ian Berry reviewed PEX16
Inherited white matter disorders PEX14 Ian Berry reviewed PEX14
Inherited white matter disorders PEX13 Ian Berry edited their review of PEX13
Inherited white matter disorders PEX13 Ian Berry reviewed PEX13
Inherited white matter disorders PEX12 Ian Berry edited their review of PEX12
Inherited white matter disorders PEX12 Ian Berry reviewed PEX12
Inherited white matter disorders PEX10 Ian Berry edited their review of PEX10
Inherited white matter disorders PEX10 Ian Berry reviewed PEX10
Inherited white matter disorders PEX1 Ian Berry edited their review of PEX1
Inherited white matter disorders PEX1 Ian Berry reviewed PEX1