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| Skeletal dysplasia v2.64 | PLCB3 | Eleanor Williams Phenotypes for gene: PLCB3 were changed from Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961 to Spondylometaphyseal dysplasia with corneal dystrophy OMIM:618961; spondylometaphyseal dysplasia with corneal dystrophy MONDO:0030074 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.63 | PLCB3 | Eleanor Williams Classified gene: PLCB3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.63 | PLCB3 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to red. 1 case reported and some functional data showing the effect on protein levels of the variant found. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.63 | PLCB3 | Eleanor Williams Gene: plcb3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.62 | PLCB3 | Eleanor Williams reviewed gene: PLCB3: Rating: RED; Mode of pathogenicity: None; Publications: 29122926; Phenotypes: Spondylometaphyseal dysplasia with corneal dystrophy OMIM:618961, spondylometaphyseal dysplasia with corneal dystrophy MONDO:0030074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.11 | PLCB3 |
Zornitza Stark gene: PLCB3 was added gene: PLCB3 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: PLCB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLCB3 were set to 29122926 Phenotypes for gene: PLCB3 were set to Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961 Review for gene: PLCB3 was set to RED Added comment: Single consanguineous family reported. Sources: Literature |
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