| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Peroxisomal Disorders v0.15 | EBP | Zornitza Stark Marked gene: EBP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.15 | EBP | Zornitza Stark Added comment: Comment when marking as ready: Enzyme is located primarily in ER, phenotypic overlap with peroxisomal disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.15 | EBP | Zornitza Stark Gene: ebp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.15 | EBP | Zornitza Stark Classified gene: EBP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.15 | EBP | Zornitza Stark Gene: ebp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Peroxisomal Disorders v0.4 | EBP |
Crystle Lee gene: EBP was added gene: EBP was added to Peroxisomal Disorders. Sources: Expert Review Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: EBP were set to 12509714 Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant (MIM#302960) Review for gene: EBP was set to AMBER Added comment: Well reported in females with the associated condition. Sources: Expert Review |
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