| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.4333 | TBC1D8 | Sangavi Sivagnanasundram Classified gene: TBC1D8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4333 | TBC1D8 | Sangavi Sivagnanasundram Gene: tbc1d8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4332 | TBC1D8 | Sangavi Sivagnanasundram Classified gene: TBC1D8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4332 | TBC1D8 | Sangavi Sivagnanasundram Gene: tbc1d8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4331 | TBC1D8 |
Sangavi Sivagnanasundram gene: TBC1D8 was added gene: TBC1D8 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TBC1D8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TBC1D8 were set to 41556581; 35248088; 33584793 Phenotypes for gene: TBC1D8 were set to Lennox‑Gastaut syndrome MONDO:0016532; non-syndromic hearing loss MONDO:0019587; non obstructive azoospermia or cryptozoospermia MONDO:0005372 Review for gene: TBC1D8 was set to GREEN Added comment: GREEN AR - non-obstructive azoospermia or cryptozoospermia RED AD - Lennox‑Gastaut syndrome and non-syndromic hearing loss PMID: 41556581 - Two affected unrelated individuals with biallelic variants Immunofluorescence staining showed decreased protein expression in the testis of the affected individual compared to that of a fertile individual. PMID:35248088 - AD non-syndromic hearing loss De novo heterozygous missense variant in one individual presenting with hearing loss p.Ser666Leu - GrpMax FAF = 0.2% PMID: 33584793 - AD Lennox‑Gastaut syndrome 12yrM presented with tonic, atonic seizures however had normal MRI Assumed de novo missense variant identified Sources: Literature |
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| Mendeliome v0.412 | TBC1D8B | Zornitza Stark Marked gene: TBC1D8B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.412 | TBC1D8B | Zornitza Stark Gene: tbc1d8b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.412 | TBC1D8B | Zornitza Stark Phenotypes for gene: TBC1D8B were changed from to Nephrotic syndrome, type 20, MIM# 301028 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.411 | TBC1D8B | Zornitza Stark Publications for gene: TBC1D8B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.409 | TBC1D8B | Zornitza Stark Mode of inheritance for gene: TBC1D8B was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.408 | TBC1D8B | Zornitza Stark reviewed gene: TBC1D8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30661770; Phenotypes: Nephrotic syndrome, type 20, MIM# 301028; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | TBC1D8B |
Zornitza Stark gene: TBC1D8B was added gene: TBC1D8B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBC1D8B was set to Unknown |
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