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| Skeletal dysplasia v0.318 | ENPP5 | Zornitza Stark Marked gene: ENPP5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.318 | ENPP5 | Zornitza Stark Gene: enpp5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.318 | ENPP5 |
Zornitza Stark gene: ENPP5 was added gene: ENPP5 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: ENPP5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ENPP5 were set to 40457511 Phenotypes for gene: ENPP5 were set to Skeletal dysplasia, MONDO:0018230, ENPP5-related Review for gene: ENPP5 was set to RED Added comment: Single affected individual reported distinct oro-dental phenotype including premaxillary and gingival overgrowth and hypercementosis and a homozygous missense variant p.Gly58Val, affecting a conserved glycine residue predicted to be within a putative active binding site of the ENPP5 protein. In mice, RNA-seq and immunofluorescence confirmed Enpp5 expression in functional osteoblasts of the maxilla and mandible, periodontal ligament, odontoblasts, and ameloblasts. Sources: Literature |
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