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| Mendeliome v2.60 | NEURL1 | Zornitza Stark Marked gene: NEURL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.60 | NEURL1 | Zornitza Stark Gene: neurl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.60 | NEURL1 |
Zornitza Stark gene: NEURL1 was added gene: NEURL1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NEURL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEURL1 were set to 42192612 Phenotypes for gene: NEURL1 were set to Congenital hypothyroidism, MONDO:0018612, NEURL1-related Review for gene: NEURL1 was set to RED Added comment: PMID 42192612 reports one individual with biallelic missense NEURL1 variants (p.H68Y) causing isolated congenital hypothyroidism (childhood‑onset). Segregation analysis shows biparental inheritance. Zebrafish neurl1aa morpholino knockdown recapitulates thyroid defects. Sources: Literature |
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