| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Epidermolysis bullosa v0.24 | PLOD3 | Zornitza Stark Marked gene: PLOD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.24 | PLOD3 | Zornitza Stark Added comment: Comment when marking as ready: Agree, at present unclear what proportion of affected individuals have EB phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.24 | PLOD3 | Zornitza Stark Gene: plod3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.24 | PLOD3 | Zornitza Stark Classified gene: PLOD3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.24 | PLOD3 | Zornitza Stark Gene: plod3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.23 | PLOD3 |
Lauren Akesson gene: PLOD3 was added gene: PLOD3 was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to 18834968; 30463024 Phenotypes for gene: PLOD3 were set to Blistering skin lesions Penetrance for gene: PLOD3 were set to unknown Review for gene: PLOD3 was set to AMBER Added comment: Two unrelated families with complex phenotype -18834968 with global developmental delay, facial dysmorphism, myopia, skeletal changes, blistering of toes, fingers and pinnae from infancy to age 5 years - 30463024 with developmental delay, facial dysmorphism, myopia, diaphragmatic eventration, skeletal changes, haemorrhagic blisters and erosions - A further 3 families with biallelic variants in this gene also had a complex phenotype that did not include blistering skin As there are only two unrelated families with Epidermolysis Bullosa-like skin changes, this gene does not meet criteria for a gene-disease association. Sources: Literature |
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