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| Epidermolysis bullosa and congenital skin fragility v1.31 | LAMA3 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Epidermolysis bullosa, junctional, Herlitz type, 226700;Shabbir syndrome;Epidermolysis bullosa, junctional, non-Herlitz type;Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate);Junctional Epidermolysis Bullosa;Epidermolysis bullosa, generalized atrophic benign, 226650;Laryngoonychocutaneous syndrome, 245660 |
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| Epidermolysis bullosa and congenital skin fragility v1.31 | LAMA3 | Ivone Leong Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700; Shabbir syndrome; Epidermolysis bullosa, junctional, non-Herlitz type; Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate); Junctional Epidermolysis Bullosa; Epidermolysis bullosa, generalized atrophic benign, 226650; Laryngoonychocutaneous syndrome, 245660 to Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700; Epidermolysis bullosa, generalized atrophic benign, OMIM:226650; Laryngoonychocutaneous syndrome, OMIM:245660 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.9 | LAMA3 | Rebecca Foulger commented on gene: LAMA3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.3 | LAMA3 |
Ellen McDonagh gene: LAMA3 was added gene: LAMA3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA3 were set to 8586427; 8618022; 20301304; 12915477; 11810295; 8530087 Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700; Shabbir syndrome; Epidermolysis bullosa, junctional, non-Herlitz type; Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate); Junctional Epidermolysis Bullosa; Epidermolysis bullosa, generalized atrophic benign, 226650; Laryngoonychocutaneous syndrome, 245660 |
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