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| Amelogenesis imperfecta v1.11 | LAMA3 | Ain Roesley Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Laryngoonychocutaneous syndrome, MIM# 245660 to Epidermolysis bullosa, junctional 2A, intermediate MIM#619783; Epidermolysis bullosa, junctional 2B, severe MIM#619784; Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v0.32 | LAMA3 | Zornitza Stark Marked gene: LAMA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v0.32 | LAMA3 | Zornitza Stark Gene: lama3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v0.32 | LAMA3 | Zornitza Stark Phenotypes for gene: LAMA3 were changed from Laryngoonychocutaneous syndrome 245660; Epidermolysis bullosa, junctional, Herlitz type 226700; Epidermolysis bullosa, generalized atrophic benign 226650; Amelogenesis imperfecta, hypoplastic type to Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Laryngoonychocutaneous syndrome, MIM# 245660 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v0.31 | LAMA3 | Zornitza Stark Mode of inheritance for gene: LAMA3 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v0.30 | LAMA3 | Zornitza Stark reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, generalized atrophic benign, MIM# 226650, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Laryngoonychocutaneous syndrome, MIM# 245660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v0.0 | LAMA3 |
Zornitza Stark gene: LAMA3 was added gene: LAMA3 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LAMA3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: LAMA3 were set to 22434185; 26502894; 27827380 Phenotypes for gene: LAMA3 were set to Laryngoonychocutaneous syndrome 245660; Epidermolysis bullosa, junctional, Herlitz type 226700; Epidermolysis bullosa, generalized atrophic benign 226650; Amelogenesis imperfecta, hypoplastic type |
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