Deafness_Isolated
Gene: STX4EnsemblGeneIds (GRCh38): ENSG00000103496
EnsemblGeneIds (GRCh37): ENSG00000103496
OMIM: 186591, Gene2Phenotype
STX4 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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: LiteratureCreated: 24 Mar 2023, 3:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Non-syndromic genetic hearing loss, MONDO:0019497, STX4-related
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Deafness, autosomal recessive 123, MIM# 620745
- OMIM
- 186591
- Clinvar variants
- Variants in STX4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: STX4 were changed from Non-syndromic genetic hearing loss, MONDO:0019497, STX4-related to Deafness, autosomal recessive 123, MIM# 620745
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: stx4 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: stx4 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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