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| DDG2P v3.12 | PEX19 | Achchuthan Shanmugasundram reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ZELLWEGER SYNDROME, OMIM:214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX16 | Achchuthan Shanmugasundram reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9, OMIM:603360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX14 | Achchuthan Shanmugasundram reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K, OMIM:601791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX13 | Achchuthan Shanmugasundram reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13, OMIM:601789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX12 | Achchuthan Shanmugasundram reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3, OMIM:601758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX11B | Achchuthan Shanmugasundram reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28129423, 22581968; Phenotypes: Peroxisome biogenesis disorder 14B, OMIM:614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX10 | Achchuthan Shanmugasundram reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7, OMIM:602859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PEX1 | Achchuthan Shanmugasundram reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9398847; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1, OMIM:602136; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PEX1 | Achchuthan Shanmugasundram Publications for gene: PEX1 were updated from to 9398847 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.68 | PEX6 | Sarah Leigh changed review comment from: 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).; to: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.67 | 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 phenotypes to: 29220678; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX19 | Rebecca Foulger reviewed gene: PEX19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX16 | Rebecca Foulger reviewed gene: PEX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX14 | Rebecca Foulger reviewed gene: PEX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX13 | Rebecca Foulger reviewed gene: PEX13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX12 | Rebecca Foulger reviewed gene: PEX12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX11B | Rebecca Foulger reviewed gene: PEX11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX10 | Rebecca Foulger reviewed gene: PEX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PEX1 | Rebecca Foulger reviewed gene: PEX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX19 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14 600279 for gene: PEX19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX19 |
Rebecca Foulger gene: PEX19 was added gene: PEX19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX19 were set to ZELLWEGER SYNDROME 214100 |
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| DDG2P v0.1 | PEX16 | Rebecca Foulger Added phenotypes ZELLWEGER SYNDROME 214100 for gene: PEX16 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX16 |
Rebecca Foulger gene: PEX16 was added gene: PEX16 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 603360 |
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| DDG2P v0.1 | PEX14 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K 601791 for gene: PEX14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX14 |
Rebecca Foulger gene: PEX14 was added gene: PEX14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX14 were set to ZELLWEGER SYNDROME 214100 |
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| DDG2P v0.1 | PEX13 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13 601789 for gene: PEX13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX13 |
Rebecca Foulger gene: PEX13 was added gene: PEX13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX13 were set to ADRENOLEUKODYSTROPHY NEONATAL 202370 |
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| DDG2P v0.1 | PEX12 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3 601758 for gene: PEX12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX12 |
Rebecca Foulger gene: PEX12 was added gene: PEX12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX12 were set to ZELLWEGER SYNDROME 214100 |
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| DDG2P v0.1 | PEX11B |
Rebecca Foulger gene: PEX11B was added gene: PEX11B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX11B were set to 28129423; 22581968 Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B |
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| DDG2P v0.1 | PEX10 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 602859 for gene: PEX10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX10 | Rebecca Foulger Added phenotypes ZELLWEGER SYNDROME 214100 for gene: PEX10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX10 |
Rebecca Foulger gene: PEX10 was added gene: PEX10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX10 were set to ADRENOLEUKODYSTROPHY NEONATAL 202370 |
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| DDG2P v0.1 | PEX1 | Rebecca Foulger Added phenotypes INFANTILE REFSUM DISEASE 266510 for gene: PEX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX1 | Rebecca Foulger Added phenotypes ADRENOLEUKODYSTROPHY NEONATAL 202370 for gene: PEX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PEX1 |
Rebecca Foulger gene: PEX1 was added gene: PEX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX1 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 602136 |
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