Activity
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7 actions
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| Likely inborn error of metabolism v8.100 | PEX14 | Ida Ertmanska commented on gene: PEX14: Comment on mode of inheritance: There are 2 individuals reported with de novo heterozygous PEX14 variants and a mild peroxisome biogenesis disorder. The MOI should remain set to BIALLELIC, until more evidence emerges in support of dominant disease - added watchlist_moi tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.100 | PEX14 | Ida Ertmanska Phenotypes for gene: PEX14 were changed from Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 13A (Zellweger) to Peroxisome biogenesis disorder 13A (Zellweger), OMIM:614887; peroxisome biogenesis disorder 13A (Zellweger), MONDO:0013952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.99 | PEX14 | Ida Ertmanska Publications for gene: PEX14 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.98 | PEX14 | Ida Ertmanska Tag watchlist_moi tag was added to gene: PEX14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.98 | PEX14 | Ida Ertmanska reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 37493040; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger), OMIM:614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | PEX14 |
Ivone Leong Source NHS GMS was added to PEX14. Source London North GLH was added to PEX14. |
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| Likely inborn error of metabolism v0.4 | PEX14 |
Ellen McDonagh gene: PEX14 was added gene: PEX14 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX14 were set to 27604308 Phenotypes for gene: PEX14 were set to Disorders of peroxisome biogenesis; Peroxisome biogenesis disorder 13A (Zellweger) |
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