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Malformations of cortical development v2.140 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
Malformations of cortical development PEX11A Louise Daugherty edited their review of PEX11A
Malformations of cortical development PEX19 Helen Brittain reviewed PEX19
Malformations of cortical development PEX16 Helen Brittain reviewed PEX16
Malformations of cortical development PEX14 Helen Brittain reviewed PEX14
Malformations of cortical development PEX13 Helen Brittain reviewed PEX13
Malformations of cortical development PEX12 Helen Brittain reviewed PEX12
Malformations of cortical development PEX11B Helen Brittain reviewed PEX11B
Malformations of cortical development PEX10 Helen Brittain reviewed PEX10
Malformations of cortical development PEX1 Helen Brittain reviewed PEX1
Malformations of cortical development PEX1 Louise Daugherty Added gene to panel