| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.1975 | LAMA3 | Zornitza Stark Marked gene: LAMA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1975 | LAMA3 | Zornitza Stark Gene: lama3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1975 | LAMA3 | Zornitza Stark Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional 226700 to Epidermolysis bullosa, junctional, Herlitz type (MIM#226700) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1974 | LAMA3 | Zornitza Stark Publications for gene: LAMA3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1973 | LAMA3 | Zornitza Stark reviewed gene: LAMA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type (MIM#226700), Epidermolysis bullosa, generalized atrophic benign (MIM#226650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1933 | LAMA3 |
Daniel Flanagan changed review comment from: Biallelic LAMA3 variants cause junctional epidermolysis bullosa, blistering is present at birth or shortly after. LAMA3 also associated with Laryngoonychocutaneous syndrome, which seems to have ulceration in the first few months of life.; to: Biallelic LAMA3 variants cause epidermolysis bullosa, blistering is present at birth or shortly after. LAMA3 also associated with Laryngoonychocutaneous syndrome, which appears to have ulceration and other features onset in the first few months of life. |
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| Fetal anomalies v0.1933 | LAMA3 | Daniel Flanagan reviewed gene: LAMA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 7633458, 8530087, 11810295, 10366601; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type (MIM#226700), Epidermolysis bullosa, generalized atrophic benign (MIM#226650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1933 | LAMA3 | Daniel Flanagan Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1933 | LAMA3 | Daniel Flanagan reviewed gene: LAMA3: Rating: RED; Mode of pathogenicity: None; Publications: 7633458, 8530087, 11810295, 10366601; 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | LAMA3 |
Zornitza Stark gene: LAMA3 was added gene: LAMA3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional 226700 |
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