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| Limb disorders v8.9 | NPR2 | Ida Ertmanska changed review comment from: Comment on list classification: There are 27 individuals reported in PMID: 40424589 with heterozygous NPR2 variants and idiopathic short stature, with limb disorders being the main skeletal feature. Brachydactyly was present in 13/27 individuals. Clinodactyly and syndactyly have also been reported. Hence, the rating should be promoted to Green on Limb disorders at the next GMS update.; to: Comment on list classification: There are 27 individuals reported in PMID: 40424589 with heterozygous NPR2 variants and idiopathic short stature, with limb disorders being the main skeletal feature. Brachydactyly was present in 13/27 individuals. Clinodactyly and syndactyly have also been reported. Brachydactyly is also a consistent feature in recessive NPR2-related skeletal dysplasia (Acromesomelic dysplasia 1, Maroteaux type). Hence, the rating should be promoted to Green on Limb disorders at the next GMS update, with MOI set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v8.9 | NPR2 | Ida Ertmanska Classified gene: NPR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v8.9 | NPR2 | Ida Ertmanska Added comment: Comment on list classification: There are 27 individuals reported in PMID: 40424589 with heterozygous NPR2 variants and idiopathic short stature, with limb disorders being the main skeletal feature. Brachydactyly was present in 13/27 individuals. Clinodactyly and syndactyly have also been reported. Hence, the rating should be promoted to Green on Limb disorders at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v8.9 | NPR2 | Ida Ertmanska Gene: npr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v8.8 | NPR2 | Ida Ertmanska edited their review of gene: NPR2: Changed rating: GREEN; Changed publications to: 40424589; Changed phenotypes to: Short stature with nonspecific skeletal abnormalities, OMIM:616255; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v8.8 | NPR2 | Ida Ertmanska commented on gene: NPR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v8.8 | NPR2 | Ida Ertmanska Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v8.8 | NPR2 |
Ida Ertmanska gene: NPR2 was added gene: NPR2 was added to Limb disorders. Sources: Literature Q2_26_promote_green tags were added to gene: NPR2. Mode of inheritance for gene: NPR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NPR2 were set to 40424589 Phenotypes for gene: NPR2 were set to Short stature with nonspecific skeletal abnormalities, OMIM:616255 Review for gene: NPR2 was set to GREEN Added comment: 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: mild dysproportion, cone-shaped epiphysis, and shortened metacarpals. 21/27 individuals had dysmorphic features of the hands, 13/27 had brachydactyly; clinodactyly and syndactyly were also reported. All the children were 4-18 years old at the start of GH treatment (and height measurement). Sources: Literature |
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| Limb disorders v8.8 | NPR2 |
Ida Ertmanska gene: NPR2 was added gene: NPR2 was added to Limb disorders. Sources: Literature Q2_26_promote_green tags were added to gene: NPR2. Mode of inheritance for gene: NPR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NPR2 were set to 40424589 Phenotypes for gene: NPR2 were set to Short stature with nonspecific skeletal abnormalities, OMIM:616255 Review for gene: NPR2 was set to GREEN Added comment: 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: mild dysproportion, cone-shaped epiphysis, and shortened metacarpals. 21/27 individuals had dysmorphic features of the hands, 13/27 had brachydactyly; clinodactyly and syndactyly were also reported. All the children were 4-18 years old at the start of GH treatment (and height measurement). Sources: Literature |
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| Limb disorders v8.8 | NPR2 |
Ida Ertmanska gene: NPR2 was added gene: NPR2 was added to Limb disorders. Sources: Literature Q2_26_promote_green tags were added to gene: NPR2. Mode of inheritance for gene: NPR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NPR2 were set to 40424589 Phenotypes for gene: NPR2 were set to Short stature with nonspecific skeletal abnormalities, OMIM:616255 Review for gene: NPR2 was set to GREEN gene: NPR2 was marked as current diagnostic Added comment: 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: mild dysproportion, cone-shaped epiphysis, and shortened metacarpals. 21/27 individuals had dysmorphic features of the hands, 13/27 had brachydactyly; clinodactyly and syndactyly were also reported. All the children were 4-18 years old at the start of GH treatment (and height measurement). Sources: Literature |
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