| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Deafness_Isolated v1.54 | STX4 | Zornitza Stark Phenotypes for gene: STX4 were changed from Non-syndromic genetic hearing loss, MONDO:0019497, STX4-related to Deafness, autosomal recessive 123, MIM# 620745 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.42 | STX4 | Zornitza Stark Marked gene: STX4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.42 | STX4 | Zornitza Stark Gene: stx4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.42 | STX4 | Zornitza Stark Classified gene: STX4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.42 | STX4 | Zornitza Stark Gene: stx4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.41 | STX4 |
Zornitza Stark gene: STX4 was added gene: STX4 was added to Deafness_Isolated. Sources: 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 Non-syndromic genetic hearing loss, MONDO:0019497, STX4-related Review for gene: STX4 was set to AMBER Added comment: PMID:36355422 reported a large consanguineous Pakistani family with eight affected individuals showing bilateral severe-to-profound hearing impairment. A homozygous splice region variant was identified in STX4 (c.232 + 6T>C), which causes exon skipping and a frameshift, that segregated with hearing impairment in this family. In silico analysis showed that murine Stx4a is highly and widespread expressed in the developing and adult inner ear. Knockdown of stx4 in zebrafish showed an abnormal startle response, morphological and developmental defects, and a disrupted mechanotransduction function in neuromast hair cells. Sources: Literature |
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