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| Deafness_IsolatedAndComplex v1.342 | FOXI1 |
Zornitza Stark edited their review of gene: FOXI1: Added comment: PMID 41833579: reports 2 individuals from 2 unrelated families (F814 and F824) with a de novo heterozygous in‑frame deletion c.479_481del (p.Asn161del) presenting with Mondini malformation, enlarged vestibular aqueduct, and severe to profound sensorineural hearing loss. The variant is absent from gnomAD and other databases. Functional evidence includes a Foxi1 N155del/+ knock‑in mouse model that recapitulates cochlear dysplasia, EVA and elevated ABR thresholds, and luciferase reporter assays showing a dominant‑negative reduction of SLC26A4 promoter activity. PMID 27997596 reports 2 unrelated individuals with heterozygous FOXI1 missense variants (c.519C>A de novo, c.716C>T) presenting with childhood‑onset sensorineural hearing loss and enlarged vestibular aqueduct. c.519C>A lies in the conserved forkhead DNA‑binding domain.; Changed rating: GREEN; Changed publications: 41833579, 27997596; Changed phenotypes: Hearing loss disorder, MONDO:0005365, FOXI1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Deafness_IsolatedAndComplex v0.11 | SLC26A4 | Zornitza Stark Marked gene: SLC26A4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.11 | SLC26A4 | Zornitza Stark Gene: slc26a4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.11 | SLC26A4 | Zornitza Stark Phenotypes for gene: SLC26A4 were changed from to Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791; Pendred syndrome, MIM#274600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.10 | SLC26A4 | Zornitza Stark Publications for gene: SLC26A4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.9 | SLC26A4 | Zornitza Stark Mode of inheritance for gene: SLC26A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.8 | SLC26A4 | Chern Lim reviewed gene: SLC26A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9618167, 19204907; Phenotypes: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791, Pendred syndrome, MIM#274600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.8 | SLC26A4 | Chern Lim Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.8 | SLC26A4 | Chern Lim reviewed gene: SLC26A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9618167, 19204907; Phenotypes: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, MIM#600791, Pendred syndrome, MIM#274600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.0 | SLC26A4 |
Zornitza Stark gene: SLC26A4 was added gene: SLC26A4 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: SLC26A4 was set to Unknown |
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