| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Peroxisomal Disorders v0.47 | PEX14 | Zornitza Stark Phenotypes for gene: PEX14 were changed from peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268 to peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.46 | PEX14 | Zornitza Stark Marked gene: PEX14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.46 | PEX14 | Zornitza Stark Gene: pex14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.46 | PEX14 | Zornitza Stark Phenotypes for gene: PEX14 were changed from to peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.46 | PEX14 | Zornitza Stark Publications for gene: PEX14 were set to 37493040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.45 | PEX14 | Zornitza Stark Publications for gene: PEX14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.45 | PEX14 | Zornitza Stark Mode of inheritance for gene: PEX14 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.44 | PEX14 | Zornitza Stark Mode of inheritance for gene: PEX14 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.43 | PEX14 | Zornitza Stark reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.43 | PEX14 | Lilian Downie reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 37493040; Phenotypes: peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.30 | PEX11B | Zornitza Stark Marked gene: PEX11B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.30 | PEX11B | Zornitza Stark Gene: pex11b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.30 | PEX11B | Zornitza Stark Phenotypes for gene: PEX11B were changed from to Peroxisome biogenesis disorder 14B - MIM#614920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.29 | PEX11B | Zornitza Stark Publications for gene: PEX11B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.28 | PEX11B | Zornitza Stark Mode of inheritance for gene: PEX11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.27 | PEX11B | Zornitza Stark reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301621, 22581968; Phenotypes: Peroxisome biogenesis disorder 14B - MIM#614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.0 | PEX19 |
Zornitza Stark gene: PEX19 was added gene: PEX19 was added to Peroxisomal Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX19 was set to Unknown |
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| Peroxisomal Disorders v0.0 | PEX16 |
Zornitza Stark gene: PEX16 was added gene: PEX16 was added to Peroxisomal Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX16 was set to Unknown |
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| Peroxisomal Disorders v0.0 | PEX14 |
Zornitza Stark gene: PEX14 was added gene: PEX14 was added to Peroxisomal Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX14 was set to Unknown |
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| Peroxisomal Disorders v0.0 | PEX13 |
Zornitza Stark gene: PEX13 was added gene: PEX13 was added to Peroxisomal Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX13 was set to Unknown |
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| Peroxisomal Disorders v0.0 | PEX12 |
Zornitza Stark gene: PEX12 was added gene: PEX12 was added to Peroxisomal Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX12 was set to Unknown |
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| Peroxisomal Disorders v0.0 | PEX11B |
Zornitza Stark gene: PEX11B was added gene: PEX11B was added to Peroxisomal Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX11B was set to Unknown |
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| Peroxisomal Disorders v0.0 | PEX10 |
Zornitza Stark gene: PEX10 was added gene: PEX10 was added to Peroxisomal Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX10 was set to Unknown |
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| Peroxisomal Disorders v0.0 | PEX1 |
Zornitza Stark gene: PEX1 was added gene: PEX1 was added to Peroxisomal Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX1 was set to Unknown |
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