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| Intellectual disability v10.81 | NPTN | Achchuthan Shanmugasundram Classified gene: NPTN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.81 | NPTN | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (8 unrelated patients) for the association of monoallelic NPTN variants with mild-severe intellectual disability/ developmental delay. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.81 | NPTN | Achchuthan Shanmugasundram Gene: nptn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.80 | NPTN | Achchuthan Shanmugasundram Tag Q3_26_promote_green tag was added to gene: NPTN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.80 | NPTN |
Achchuthan Shanmugasundram gene: NPTN was added gene: NPTN was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: NPTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NPTN were set to 42387534 Phenotypes for gene: NPTN were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: NPTN was set to GREEN Added comment: PMID:42387534 (2026) reported a cohort of eight individuals with seven different heterozygous variants in NPTN, seven of which are of de novo origin. The patients presented with an overlapping, but unspecific phenotype, All eight individuals presented with developmental delay (DD) and/or intellectual disability (ID) ranging from mild to severe (severe in four, moderate in two and mild in two). Seven individuals were diagnosed with autism spectrum disorder and six were reported with subtle dysmorphic facial features. Four individuals had variants (three variants) affecting the two hNp isoforms, hNp55 and hNp65 and other four variants affect only the neuron-specific hNp65 isoform. It was observed that the severity of ID/DD and other clinical findings correlate with the impact on both hNp isoforms (severe) or only on the hNp65 isoform (mild/moderate). Functional evidence from human cell line, cultured primary rodent neurons, and in vivo in Drosophila melanogaster showed that the missense variants are inefficiently expressed and inefficiently support PMCA levels, resulting in failed cytosolic Ca(2+) regulation. Haploinsuffient Nptn+/− mice expressed reduced amounts of both Np and PMCA. In a social behavior test, Nptn+/− mice displayed loss of preference for a novel mouse representing an endophenotype analog to social deficits that characterize autism. This gene has not yet been associated with relevant phenotypes in OMIM, Gene2Phenotype or ClinGen (last accessed 29 July 2026). Sources: Literature |
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