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| Prepair 1000+ v1.546 | LAMA3 | Lisa Norbart reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7633458, 8530087, 11810295, 10366601; Phenotypes: Epidermolysis bullosa, junctional 2B, severe (MIM#619784), 3. Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous (MIM#245660), Epidermolysis bullosa, junctional 2A, intermediate (MIM#619783); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | LAMA3 | Seb Lunke Added phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) for gene: LAMA3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | LAMA3 |
Zornitza Stark gene: LAMA3 was added gene: LAMA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) |
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