| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Deafness_IsolatedAndComplex v0.536 | WHRN | Zornitza Stark edited their review of gene: WHRN: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.536 | WHRN | Zornitza Stark Marked gene: WHRN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.536 | WHRN | Zornitza Stark Gene: whrn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.536 | WHRN | Zornitza Stark Phenotypes for gene: WHRN were changed from to Usher syndrome, type 2D, MIM# 611383; Deafness, autosomal recessive 31, MIM# 607084 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.535 | WHRN | Zornitza Stark Mode of inheritance for gene: WHRN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.534 | WHRN | Zornitza Stark Publications for gene: WHRN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.533 | WHRN | Zornitza Stark edited their review of gene: WHRN: Changed phenotypes: Usher syndrome, type 2D, MIM# 611383, Deafness, autosomal recessive 31, MIM# 607084 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.533 | WHRN |
Zornitza Stark changed review comment from: Association with Usher syndrome: DEFINITIVE by ClinGen, multiple families and animal models. Of note, the Whrn(neo/neo) mouse model, in which the N-terminal and long transcripts are ablated, leads to Usher syndrome (Mather et al. 2015, PMID: 26307081). Associated with isolated AR deafness: MODERATE by ClinGen. Of note, the Whrn(wi/wi) model, which disrupts only the long and C-terminal transcripts, results in a mouse with profound hearing loss and severe vestibular defect without a retinal phenotype (Ebrahim et al. 2016, PMID: 27117407). The Whrn(tm1b/tm1b) model disrupts the C-terminal transcripts, resulting in a mouse with mild-hearing loss and no vestibular or retinal defects (Ebrahim et al. 2016, PMID: 27117407). Several families reported with AR deafness, however, in many reports, there is insufficient phenotyping to be certain an eye phenotype is absent.; to: Multiple transcripts with differential tissue expression exist for WHRN which are thought to explain the basis for distinct phenotypes. The long transcript is expressed in the retina, vestibule and cochlea, whereas the C-terminal transcript is expressed exclusively in the cochlea and vestibule and the N-terminal transcript is expressed exclusively in the retina (Ebrahim et al. 2016, PMID: 27117407). Association with Usher syndrome: DEFINITIVE by ClinGen, multiple families and animal models. Of note, the Whrn(neo/neo) mouse model, in which the N-terminal and long transcripts are ablated, leads to Usher syndrome (Mather et al. 2015, PMID: 26307081). Associated with isolated AR deafness: MODERATE by ClinGen. Of note, the Whrn(wi/wi) model, which disrupts only the long and C-terminal transcripts, results in a mouse with profound hearing loss and severe vestibular defect without a retinal phenotype (Ebrahim et al. 2016, PMID: 27117407). The Whrn(tm1b/tm1b) model disrupts the C-terminal transcripts, resulting in a mouse with mild-hearing loss and no vestibular or retinal defects (Ebrahim et al. 2016, PMID: 27117407). Several families reported with AR deafness, however, in many reports, there is insufficient phenotyping to be certain an eye phenotype is absent. |
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| Deafness_IsolatedAndComplex v0.533 | WHRN | Zornitza Stark reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 17171570, 21738389, 22147658, 26338283, 12833159, 20502675, 28254438, 27117407, 12833159, 29270100, 15841483; Phenotypes: Usher syndrome, type 2D, MIM# 611383; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.0 | WHRN |
Zornitza Stark gene: WHRN was added gene: WHRN 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: WHRN was set to Unknown |
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