Activity
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| Intellectual disability v8.169 | NHLRC2 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: NHLRC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.166 | NHLRC2 | Achchuthan Shanmugasundram Classified gene: NHLRC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.166 | NHLRC2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (>15 unrelated cases with moderate/ severe GDD/ ID) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.166 | NHLRC2 | Achchuthan Shanmugasundram Gene: nhlrc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.165 | NHLRC2 | Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:39328589 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.165 | NHLRC2 | Achchuthan Shanmugasundram Publications for gene: NHLRC2 were set to 37188825; 39328589 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.164 | NHLRC2 | Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: NHLRC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.164 | NHLRC2 |
Achchuthan Shanmugasundram gene: NHLRC2 was added gene: NHLRC2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHLRC2 were set to 37188825; 39328589 Phenotypes for gene: NHLRC2 were set to FINCA syndrome, OMIM:618278 Review for gene: NHLRC2 was set to GREEN Added comment: PMID:37188825 reported 15 patients ranging in age from 22 months to 19 years, from 12 unrelated families with an overlapping phenotype with FINCA syndrome (MIM #618278). They were identified with nine novel NHLRC2 variants via exome sequencing. All these patients presented with moderate to severe global developmental delay and variable disease progression. Seizures, truncal hypotonia and movement disorders were also frequently observed. PMID:39328589 reported two siblings of Chinese decent with FINCA syndrome and they were identified with the same compound heterozygous variants in NHLRC2 gene. Both of them presented with developmental delay, of which the younger brother was evaluated with a development quotient (DQ) of 39 at four months of age (normal range >85), indicating moderate intellectual disability. This gene has also been associated with relevant phenotype on the DD panel of Gene2Phenotype, with a definitive rating. Sources: Literature |
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