| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ductal plate malformation v0.66 | PEX1 | Ivone Leong Marked gene: PEX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.66 | PEX1 | Ivone Leong Gene: pex1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.66 | PEX1 | Ivone Leong Classified gene: PEX1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.66 | PEX1 | Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. Based on the comment by Anna de Burca (Genomics England Curator). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.66 | PEX1 | Ivone Leong Gene: pex1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.63 | PEX1 | Anna de Burca reviewed gene: PEX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.60 | PEX1 | Ivone Leong Publications for gene: PEX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.27 | PEX14 | Ivone Leong Source Expert Review Red was added to PEX14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.27 | PEX1 |
Ivone Leong Source Expert Review Amber was added to PEX1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Ductal plate malformation v0.26 | PEX14 | Ivone Leong reviewed gene: PEX14: Rating: RED; Mode of pathogenicity: ; Publications: 15146459; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.26 | PEX1 | Ivone Leong reviewed gene: PEX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 12032265; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.25 | PEX19 |
Ivone Leong gene: PEX19 was added gene: PEX19 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger) (614886) |
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| Ductal plate malformation v0.25 | PEX16 |
Ivone Leong gene: PEX16 was added gene: PEX16 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A (Zellweger) (614876); Peroxisome biogenesis disorder 8B (614877) |
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| Ductal plate malformation v0.25 | PEX14 |
Ivone Leong gene: PEX14 was added gene: PEX14 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger) (614887) |
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| Ductal plate malformation v0.25 | PEX13 |
Ivone Leong gene: PEX13 was added gene: PEX13 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11B (614885); Peroxisome biogenesis disorder 11A (Zellweger) (614883) |
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| Ductal plate malformation v0.25 | PEX12 |
Ivone Leong gene: PEX12 was added gene: PEX12 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3B (266510); Peroxisome biogenesis disorder 3A (Zellweger) (614859) |
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| Ductal plate malformation v0.25 | PEX11B |
Ivone Leong gene: PEX11B was added gene: PEX11B was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX11B were set to ?Peroxisome biogenesis disorder 14B (614920) |
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| Ductal plate malformation v0.25 | PEX10 |
Ivone Leong gene: PEX10 was added gene: PEX10 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger) (614870); Peroxisome biogenesis disorder 6B (614871) |
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| Ductal plate malformation v0.25 | PEX1 |
Ivone Leong gene: PEX1 was added gene: PEX1 was added to Ductal plate malformation (DPM). Sources: Expert list Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1B (NALD/IRD) (601539); Peroxisome biogenesis disorder 1A (Zellweger) (214100) |
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