Activity
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| Skeletal dysplasia v10.15 | LRP4 | Ida Ertmanska Phenotypes for gene: LRP4 were changed from Sclerosteosis 2 614305; Cenani-Lenz syndactyly syndrome 212780 to Cenani-Lenz syndactyly syndrome, OMIM:212780; Cenani-Lenz syndactyly syndrome, MONDO:0008931; Sclerosteosis 2, OMIM:614305; sclerosteosis 2, MONDO:0013679 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v10.14 | LRP4 | Ida Ertmanska Publications for gene: LRP4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v10.13 | LRP4 | Ida Ertmanska Tag Q4_26_MOI tag was added to gene: LRP4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v10.13 | LRP4 | Ida Ertmanska commented on gene: LRP4: Comment on mode of inheritance: There are numerous individuals reported in literature with biallelic LRP4 variants, presenting with either Sclerosteosis 2 or Cenani-Lenz syndactyly syndrome, with skeletal features such as bone overgrowth, phalangeal synostosis, shortened and disorganized metacarpals. There are also two individuals reported to date with skeletal and/or limb disorders, heterozygous for missense LRP4 variants - one of which was detected by targeted sequencing of LRP4 (other genes like SOST are known to cause a similar phenotype). In addition, heterozygous carriers of LRP4 missense variants in recessive pedigrees are always unaffected. Based on available evidence, the MOI should be changed to BIALLELIC, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v10.13 | LRP4 | Ida Ertmanska reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21471202, 26751728, 30077757, 34857885, 35052419, 38013226, https://doi.org/10.1186/s43042-025-00783-837563890; Phenotypes: Cenani-Lenz syndactyly syndrome, OMIM:212780, Cenani-Lenz syndactyly syndrome, MONDO:0008931, Sclerosteosis 2, OMIM:614305, sclerosteosis 2, MONDO:0013679; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.153 | LRP4 | Eleanor Williams Added phenotypes Sclerosteosis 2 614305; Cenani-Lenz syndactyly syndrome 212780 for gene: LRP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | LRP4 | Tracy Lester reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cenani-Lenz syndactyly syndrome 212780, Sclerosteosis 2 614305; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | LRP4 | Eleanor Williams reviewed gene: LRP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | LRP4 |
Eleanor Williams Source NHS GMS was added to LRP4. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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