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| Growth failure in early childhood v2.33 | NPR2 | Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: NPR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.33 | NPR2 | Catherine Snow commented on gene: NPR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.32 | NPR2 |
Catherine Snow Source Expert Review Green was added to NPR2. Source NHS GMS was added to NPR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Growth failure in early childhood v2.15 | NPR2 | Arina Puzriakova Phenotypes for gene: NPR2 were changed from to Acromesomelic dysplasia 1, Maroteaux type, OMIM:602875 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.14 | NPR2 | Arina Puzriakova Mode of inheritance for gene: NPR2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.13 | NPR2 | Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: NPR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.13 | NPR2 | Arina Puzriakova Classified gene: NPR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.13 | NPR2 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene as Green under a biallelic MOI - causes severe dwarfism that is usually diagnosed at birth and becomes more obvious in the first 2 years of life (MIM# 602875). Monoallelic variants can cause idiopathic short stature (MIM# 616255) however the associated height and age at which short stature becomes apparent does not meet the criteria of the panel (height ≤−3 SDS at the age of at least 2 years). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.13 | NPR2 | Arina Puzriakova Gene: npr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.5 | NPR2 | Eleanor Williams reviewed gene: NPR2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v2.4 | NPR2 |
Eleanor Williams gene: NPR2 was added gene: NPR2 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: NPR2 was set to |
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