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| Skeletal dysplasia v2.71 | NPR2 | Eleanor Williams Added comment: Comment on mode of inheritance: Leaving the MOI as both, because there are both AD and AR inheritances associated with different types of skeletal dysplasia in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.71 | NPR2 | Eleanor Williams Mode of inheritance for gene: NPR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.70 | NPR2 |
Eleanor Williams commented on gene: NPR2: PMID: 33288834 - Simsek-Kiper et al 2020 - they investigated 26 AMDM patients from 22 unrelated families. Sanger sequencing of NPR2 was performed in 23 patients and exome sequencing was performed in 5 patients They found NPR2 variants in 23 patients (19 were homozygotes, 4 were compound heterozygotes). 22 distinct NPR2 (NM_003995) variants (14 missense, 5 nonsense, 2 intronic, and 1 single-amino acid deletion) were detected. In 14 families, segregation analysis was performed and showed the heterozygous NPR2 carrier status of the parents. Detailed radiographic evaluations were done, showing osteopenia, shortness in long tubular bones, radial bowing and radial head dislocation in the majority of cases. Other phenotypic features included motor developmental delay (11/23), global developmental delay/intellectual disability (GDD/ID) (5/23), spinal canal stenosis (2/23), and atlantoaxial dislocation (1/23), renal abnormalities and oligodontia. However, the authors note that the high level of parental consanguinity (18 patients) might have contributed to these phenotypes, from other gene variants. The height of carrier parents was also assessed and found to be significantly lower than controls. |
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| Skeletal dysplasia v2.42 | NPR2 | Mehdi Montazer reviewed gene: NPR2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: https://doi.org/10.1038/s10038-020-00871-0; Phenotypes: Acromesomelic dysplasia, Maroteaux type (OMIM: # 602875); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.153 | NPR2 | Eleanor Williams Added phenotypes Acromesomelic dysplasia, Maroteaux type 602875; Short stature with nonspecific skeletal abnormalities 616255; Epiphyseal chondrodysplasia, Miura type 615923 for gene: NPR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | NPR2 | Tracy Lester reviewed gene: NPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Acromesomelic dysplasia, Maroteaux type 602875, Epiphyseal chondrodysplasia, Miura type 615923, Short stature with nonspecific skeletal abnormalities 616255; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | NPR2 | Eleanor Williams reviewed gene: NPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | NPR2 |
Eleanor Williams Source NHS GMS was added to NPR2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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