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| Deafness_IsolatedAndComplex v1.332 | STX4 | Zornitza Stark Publications for gene: STX4 were set to 36355422 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.331 | STX4 |
Zornitza Stark edited their review of gene: STX4: Added comment: PMID 35599850: two unrelated families were identified with biallelic STX4 variants: Family 1 with a homozygous missense c.718C>T (p.Arg240Trp) and Family 2 compound heterozygous c.89_90delGC (p.Gly30Aspfs*28) and c.232+4A>C (splice‑site). Affected individuals present with early‑onset dilated cardiomyopathy, ventricular arrhythmia, sensorineural hearing loss, global developmental delay, hypotonia and multiple congenital anomalies; the second individual died perinatally. CRISPR‑generated stx4‑null zebrafish recapitulate cardiac dysfunction, bradycardia, reduced vesicle docking and altered Ca²⁺ handling. Transgenic rescue with wild‑type stx4 restores phenotype, whereas the R241W (human R240W) allele is hypomorphic and only partially rescues, supporting a loss‑of‑function mechanism. Pharmacologic L‑type Ca²⁺ channel modulation ameliorated bradycardia, further underscoring functional loss of STX4. Unclear if this is a separate disease association or whether it will be part of a spectrum with the previous isolated deafness reports.; Changed publications: 36355422, 35599850 |
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| Deafness_IsolatedAndComplex v1.260 | STX4 | Chirag Patel Marked gene: STX4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.260 | STX4 | Chirag Patel Gene: stx4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.252 | Chirag Patel Copied gene STX4 from panel Deafness_Isolated | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.252 | STX4 |
Chirag Patel gene: STX4 was added gene: STX4 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Amber,Literature Mode of inheritance for gene: STX4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STX4 were set to 36355422 Phenotypes for gene: STX4 were set to Deafness, autosomal recessive 123, MIM# 620745 |
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