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| Epidermolysis bullosa and congenital skin fragility v1.51 | COL17A1 | Arina Puzriakova Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, localisata variant, OMIM:226650; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650 to Epidermolysis bullosa, junctional 4, intermediate, OMIM:619787 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v1.10 | COL17A1 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Generalised intermediate junctional Epidermolysis bullosa;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa |
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| Epidermolysis bullosa and congenital skin fragility v1.10 | COL17A1 | Ivone Leong Phenotypes for gene: COL17A1 were changed from Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa to Epidermolysis bullosa, junctional, localisata variant, OMIM:226650; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.3 | COL17A1 |
Ellen McDonagh gene: COL17A1 was added gene: COL17A1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: COL17A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL17A1 were set to 7550320; 9012408; 10577906; 10951237 Phenotypes for gene: COL17A1 were set to Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa |
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