Activity
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10 actions
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| Monogenic short stature v2.3 | NPR2 | Ida Ertmanska Tag Q2_26_MOI tag was added to gene: NPR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.3 | NPR2 | Ida Ertmanska Publications for gene: NPR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.2 | NPR2 | Ida Ertmanska Phenotypes for gene: NPR2 were changed from Acromesomelic dysplasia 1, Maroteaux type, OMIM:602875 to Acromesomelic dysplasia 1, Maroteaux type, OMIM:602875; Short stature with nonspecific skeletal abnormalities, OMIM:616255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.1 | NPR2 | Ida Ertmanska commented on gene: NPR2: Comment on mode of inheritance: There are more than 3 unrelated individuals reported in literature with heterozygous NPR2 variants and idiopathic short stature, more severe than -3SD at age >2yrs. Biallelic variants are known to cause severe dwarfism, with stature well below -3SD. Hence, the MOI should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.1 | NPR2 |
Ida Ertmanska changed review comment from: PMID: 40424589 Renes et al., 2025 Report of 18 different NPR2 variants in 27 Dutch children with short stature (all heterozygous). Truncating variants (5/18) had a more severe effect than non-truncating variants (-3.3 vs -2.5 SDS respectively). Also, variants in the kinase homology domain (6/18 variants) were more severe than variants in other domains (-3.2 SDS vs -2.5 SDS). Majority of patients had mild features suggestive of skeletal dysplasia. 21/27 individuals had dysmorphic features of the hands, 13/27 with brachydactyly, clinodactyly and syndactyly also reported. All the children were 4-18 years old at the start of GH treatment (and height measurement) so the TD criteria are fulfilled for at least 5 individuals.; to: PMID: 40424589 Renes et al., 2025 Report of 18 different NPR2 variants in 27 Dutch children with short stature (all heterozygous). Truncating variants (5/18) had a more severe effect than non-truncating variants (-3.3 vs -2.5 SDS respectively). Also, variants in the kinase homology domain (6/18 variants) were more severe than variants in other domains (-3.2 SDS vs -2.5 SDS). Majority of patients had mild features suggestive of skeletal dysplasia. 21/27 individuals had dysmorphic features of the hands, 13/27 with brachydactyly, clinodactyly and syndactyly also reported. All the children were 4-18 years old at the start of GH treatment (and height measurement) so the TD criteria are fulfilled for at least 5 individuals (> 2 years old and height <-3SD). |
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| Monogenic short stature v2.1 | NPR2 | Ida Ertmanska edited their review of gene: NPR2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.1 | NPR2 | Ida Ertmanska edited their review of gene: NPR2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.1 | NPR2 | Ida Ertmanska reviewed gene: NPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40424589; Phenotypes: Short stature with nonspecific skeletal abnormalities, OMIM:616255; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.43 | NPR2 | Arina Puzriakova Entity copied from Growth failure in early childhood v3.76 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.43 | NPR2 |
Arina Puzriakova gene: NPR2 was added gene: NPR2 was added to Monogenic short stature. Sources: NHS GMS,Expert list,Expert Review Green Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPR2 were set to Acromesomelic dysplasia 1, Maroteaux type, OMIM:602875 |
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