| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Monogenic hearing loss v4.5 | STX4 | Achchuthan Shanmugasundram Classified gene: STX4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.5 | STX4 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as it has been implicated in congenital hearing impairment, as identified from one family and supported by functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.5 | STX4 | Achchuthan Shanmugasundram Gene: stx4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.5 | STX4 | Achchuthan Shanmugasundram Classified gene: STX4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.5 | STX4 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as it has been implicated in congenital hearing impairment, as identified from one family and supported by functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.5 | STX4 | Achchuthan Shanmugasundram Gene: stx4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.5 | STX4 | Achchuthan Shanmugasundram Classified gene: STX4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.5 | STX4 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as it has been implicated in congenital hearing impairment, as identified from one family and supported by functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.5 | STX4 | Achchuthan Shanmugasundram Gene: stx4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.4 | STX4 |
Achchuthan Shanmugasundram gene: STX4 was added gene: STX4 was added to Monogenic hearing loss. 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 Hearing impairment, HP:0000365 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. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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