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Arthrogryposis v3.157 PEX6 Sarah Leigh edited their review of gene: PEX6: Added comment: Arthrogryposis maybe over looked in patients with Peroxisome biogenesis disorder 4A (Zellweger) (OMIM:614862) and Peroxisome biogenesis disorder 4B (OMIM:6148630), as these conditions are characterized by a severe phenotype and premature death in some cases. If this is the case, for Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) have 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
Arthrogryposis PEX19 Alice Gardham marked PEX19 as ready
Arthrogryposis PEX19 Alice Gardham added PEX19 to panel
Arthrogryposis PEX19 Alice Gardham reviewed PEX19
Arthrogryposis PEX16 Alice Gardham marked PEX16 as ready
Arthrogryposis PEX16 Alice Gardham added PEX16 to panel
Arthrogryposis PEX16 Alice Gardham reviewed PEX16
Arthrogryposis PEX14 Alice Gardham marked PEX14 as ready
Arthrogryposis PEX14 Alice Gardham added PEX14 to panel
Arthrogryposis PEX14 Alice Gardham reviewed PEX14
Arthrogryposis PEX13 Alice Gardham marked PEX13 as ready
Arthrogryposis PEX13 Alice Gardham added PEX13 to panel
Arthrogryposis PEX13 Alice Gardham reviewed PEX13
Arthrogryposis PEX12 Alice Gardham marked PEX12 as ready
Arthrogryposis PEX12 Alice Gardham added PEX12 to panel
Arthrogryposis PEX12 Alice Gardham reviewed PEX12
Arthrogryposis PEX11B Alice Gardham marked PEX11B as ready
Arthrogryposis PEX11B Alice Gardham classified PEX11B as green
Arthrogryposis PEX11B Alice Gardham added PEX11B to panel
Arthrogryposis PEX11B Alice Gardham reviewed PEX11B
Arthrogryposis PEX10 Alice Gardham marked PEX10 as ready
Arthrogryposis PEX10 Alice Gardham added PEX10 to panel
Arthrogryposis PEX10 Alice Gardham reviewed PEX10
Arthrogryposis PEX1 Alice Gardham marked PEX1 as ready
Arthrogryposis PEX1 Alice Gardham added PEX1 to panel
Arthrogryposis PEX1 Alice Gardham reviewed PEX1