01 Apr 2022
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).
06 Oct 2016
Inherited white matter disorders
PEX19
Ellen Thomas classified PEX19 as amber
06 Oct 2016
Inherited white matter disorders
PEX19
Ellen Thomas commented on PEX19
06 Oct 2016
Inherited white matter disorders
PEX14
Ellen Thomas classified PEX14 as amber
06 Oct 2016
Inherited white matter disorders
PEX14
Ellen Thomas commented on PEX14
26 Aug 2016
Inherited white matter disorders
PEX19
Ellen McDonagh marked PEX19 as ready
26 Aug 2016
Inherited white matter disorders
PEX19
Ellen McDonagh classified PEX19 as amber
26 Aug 2016
Inherited white matter disorders
PEX14
Ellen McDonagh marked PEX14 as ready
26 Aug 2016
Inherited white matter disorders
PEX14
Ellen McDonagh classified PEX14 as amber
19 Aug 2016
Inherited white matter disorders
PEX16
Ellen McDonagh marked PEX16 as ready
19 Aug 2016
Inherited white matter disorders
PEX16
Ellen McDonagh classified PEX16 as green
19 Aug 2016
Inherited white matter disorders
PEX16
Ellen McDonagh commented on PEX16
19 Aug 2016
Inherited white matter disorders
PEX19
Ellen McDonagh classified PEX19 as amber
19 Aug 2016
Inherited white matter disorders
PEX19
Ellen McDonagh classified PEX19 as grey
19 Aug 2016
Inherited white matter disorders
PEX19
Ellen McDonagh commented on PEX19
19 Aug 2016
Inherited white matter disorders
PEX14
Ellen McDonagh classified PEX14 as amber
19 Aug 2016
Inherited white matter disorders
PEX14
Ellen McDonagh classified PEX14 as red
19 Aug 2016
Inherited white matter disorders
PEX14
Ellen McDonagh commented on PEX14
19 Aug 2016
Inherited white matter disorders
PEX13
Ellen McDonagh marked PEX13 as ready
19 Aug 2016
Inherited white matter disorders
PEX13
Ellen McDonagh classified PEX13 as green
19 Aug 2016
Inherited white matter disorders
PEX13
Ellen McDonagh classified PEX13 as grey
19 Aug 2016
Inherited white matter disorders
PEX13
Ellen McDonagh commented on PEX13
19 Aug 2016
Inherited white matter disorders
PEX12
Ellen McDonagh marked PEX12 as ready
19 Aug 2016
Inherited white matter disorders
PEX12
Ellen McDonagh classified PEX12 as green
19 Aug 2016
Inherited white matter disorders
PEX12
Ellen McDonagh commented on PEX12
19 Aug 2016
Inherited white matter disorders
PEX10
Ellen McDonagh marked PEX10 as ready
19 Aug 2016
Inherited white matter disorders
PEX10
Ellen McDonagh classified PEX10 as green
19 Aug 2016
Inherited white matter disorders
PEX10
Ellen McDonagh commented on PEX10
19 Aug 2016
Inherited white matter disorders
PEX1
Ellen McDonagh marked PEX1 as ready
19 Aug 2016
Inherited white matter disorders
PEX1
Ellen McDonagh classified PEX1 as green
19 Aug 2016
Inherited white matter disorders
PEX1
Ellen McDonagh classified PEX1 as grey
19 Aug 2016
Inherited white matter disorders
PEX1
Ellen McDonagh commented on PEX1
04 Aug 2016
Inherited white matter disorders
PEX19
Ian Berry reviewed PEX19
04 Aug 2016
Inherited white matter disorders
PEX16
Ian Berry edited their review of PEX16
04 Aug 2016
Inherited white matter disorders
PEX16
Ian Berry reviewed PEX16
04 Aug 2016
Inherited white matter disorders
PEX14
Ian Berry reviewed PEX14
04 Aug 2016
Inherited white matter disorders
PEX13
Ian Berry edited their review of PEX13
04 Aug 2016
Inherited white matter disorders
PEX13
Ian Berry reviewed PEX13
04 Aug 2016
Inherited white matter disorders
PEX12
Ian Berry edited their review of PEX12
04 Aug 2016
Inherited white matter disorders
PEX12
Ian Berry reviewed PEX12
04 Aug 2016
Inherited white matter disorders
PEX10
Ian Berry edited their review of PEX10
04 Aug 2016
Inherited white matter disorders
PEX10
Ian Berry reviewed PEX10
04 Aug 2016
Inherited white matter disorders
PEX1
Ian Berry edited their review of PEX1
04 Aug 2016
Inherited white matter disorders
PEX1
Ian Berry reviewed PEX1