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| Epidermolysis bullosa and congenital skin fragility v1.43 | CD151 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: [Blood group, Raph], 179620;Nephropathy with pretibial epidermolysis bullosa and deafness, 609057;Kindler syndrome-like epidermolysis bullosa |
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| Epidermolysis bullosa and congenital skin fragility v1.43 | CD151 | Ivone Leong Phenotypes for gene: CD151 were changed from [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; Kindler syndrome-like epidermolysis bullosa to Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.15 | CD151 | Catherine Snow reviewed gene: CD151: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.14 | CD151 |
Catherine Snow Source Expert Review Amber was added to CD151. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Epidermolysis bullosa and congenital skin fragility v0.9 | CD151 | Rebecca Foulger Added comment: Comment on mode of inheritance: Homozygous CD151 variant reported in patient in PMID:29138120. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.9 | CD151 | Rebecca Foulger Mode of inheritance for gene: CD151 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.8 | CD151 | Rebecca Foulger commented on gene: CD151 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.8 | CD151 | Rebecca Foulger Phenotypes for gene: CD151 were changed from [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 to [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; Kindler syndrome-like epidermolysis bullosa | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.7 | CD151 | Rebecca Foulger Publications for gene: CD151 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.3 | CD151 |
Ellen McDonagh gene: CD151 was added gene: CD151 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red Mode of inheritance for gene: CD151 was set to Phenotypes for gene: CD151 were set to [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 |
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