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| Deafness_IsolatedAndComplex v1.224 | NTN1 | Zornitza Stark Marked gene: NTN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.224 | NTN1 | Zornitza Stark Gene: ntn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.224 | NTN1 | Zornitza Stark Classified gene: NTN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.224 | NTN1 | Zornitza Stark Gene: ntn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.223 | NTN1 | Zornitza Stark edited their review of gene: NTN1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.223 | NTN1 |
Zornitza Stark gene: NTN1 was added gene: NTN1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Mode of inheritance for gene: NTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NTN1 were set to 39648562 Phenotypes for gene: NTN1 were set to Hearing loss disorder, MONDO:0005365, NTN1-related Added comment: PMID: 39648562 (Toms et al., 2024) reports a patient with bilateral sensorineural hearing loss, heterozygous for a de novo variant in NTN1: NM_004822.3:c.1483T>A p.(Tyr495Asn). Sequencing method: WGS.The patient (Female, 30 years old, White British) also had chorioretinal coloboma and microphthalmia, and right hand polydactyly. The C-terminus variant is not found in gnomAD v4.1.0; in silico prediction tools: Revel score = 0.5 (Uncertain), AlphaMissense score = 0.806 (Deleterious Supporting). In PMID: 39648562, morpholino knockdown of ntn1a in zebrafish (86% gene similarity to human ortholog) had ocular coloboma and sensory hair cell defects. At 5 dpf, hair cells of the lateral line neuromasts were found have abnormal morphology. There was also a significant reduction in the overall number of sensory hair cells present. Sources: Expert Review |
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