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| Regression v0.206 | NHLRC2 | Zornitza Stark Marked gene: NHLRC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.206 | NHLRC2 | Zornitza Stark Gene: nhlrc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.206 | NHLRC2 | Zornitza Stark Classified gene: NHLRC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.206 | NHLRC2 | Zornitza Stark Gene: nhlrc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.205 | NHLRC2 |
Paul De Fazio gene: NHLRC2 was added gene: NHLRC2 was added to Regression. Sources: Literature Mode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHLRC2 were set to 29423877; 32435055 Phenotypes for gene: NHLRC2 were set to Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278 Review for gene: NHLRC2 was set to GREEN gene: NHLRC2 was marked as current diagnostic Added comment: 3 families with compound het variants in total, all share one missense variant (p.Asp148Tyr) PMID 29423877: 3 patients from 2 Finnish families compound het for the same missense variant (122 hets 0 homs) and the same frameshift variant (12 hets 0 homs), main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. Expression studies in patient-derived fibroblasts supported the frameshift variant leading to NMD. Zebrafish knockdown affected the integrity of cells in the midbrain region. PMID 32435055: patient with the same phenotype from a Ukrainian family chet for two missense variants, one shared with the Finnish families and one novel. Sources: Literature |
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