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| Deafness_IsolatedAndComplex v1.239 | OSBPL2 | Zornitza Stark Publications for gene: OSBPL2 were set to 25077649; 25759012; 31451425; 30894143 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.238 | OSBPL2 | Zornitza Stark changed review comment from: At least three families reported, variants segregated with disease over many generations/family members; animal model.; to: At least three families reported for mono-allelic association, variants segregated with disease over many generations/family members; animal model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.238 | OSBPL2 | Zornitza Stark edited their review of gene: OSBPL2: Added comment: PMID 38701954 proposes bi-allelic association with disease but single family only with two affected siblings. One variant is splice site and the other 3'UTR. RED for bi-allelic disease.; Changed publications: 25077649, 25759012, 31451425, 30894143, 38701954; Changed phenotypes: Deafness, autosomal dominant 67, MIM# 616340, Dyschromatosis, ichthyosis, deafness, and atopic disease, MIM# 621400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.241 | OSBPL2 | Zornitza Stark Phenotypes for gene: OSBPL2 were changed from Deafness, autosomal dominant 67, MIM# 616340 to Deafness, autosomal dominant 67, MIM# 616340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.240 | OSBPL2 | Zornitza Stark Marked gene: OSBPL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.240 | OSBPL2 | Zornitza Stark Gene: osbpl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.240 | OSBPL2 | Zornitza Stark Phenotypes for gene: OSBPL2 were changed from to Deafness, autosomal dominant 67, MIM# 616340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.239 | OSBPL2 | Zornitza Stark Publications for gene: OSBPL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.238 | OSBPL2 | Zornitza Stark Mode of inheritance for gene: OSBPL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.237 | OSBPL2 | Zornitza Stark reviewed gene: OSBPL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25077649, 25759012, 31451425, 30894143; Phenotypes: Deafness, autosomal dominant 67, MIM# 616340; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.0 | OSBPL2 |
Zornitza Stark gene: OSBPL2 was added gene: OSBPL2 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: OSBPL2 was set to Unknown |
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