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| Mendeliome v2.277 | PTK2B | Rylee Peters Marked gene: PTK2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.277 | PTK2B | Rylee Peters Gene: ptk2b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.277 | PTK2B |
Rylee Peters gene: PTK2B was added gene: PTK2B was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PTK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTK2B were set to 42252453 Phenotypes for gene: PTK2B were set to Inborn error of immunity, MONDO:0003778, PTK2B-related Review for gene: PTK2B was set to RED Added comment: PMID: 42252453 reports three affected individuals from one Chinese Han family with a heterozygous missense PTK2B c.1679C>G (p.Pro560Arg) variant presenting with adult‑onset primary biliary cholangitis (PBC). Homozygous knock‑in mice recapitulate PBC‑like autoimmune features, whereas heterozygous mice are phenotypically normal. Sources: Literature |
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| Mendeliome v2.0 | TK2 | Gene migrated from ENSG00000166548 to ENSG00000166548 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12365 | TK2 | Zornitza Stark Marked gene: TK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12365 | TK2 | Zornitza Stark Gene: tk2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12365 | TK2 | Zornitza Stark Phenotypes for gene: TK2 were changed from to Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; MIM# 617069 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12364 | TK2 | Zornitza Stark Publications for gene: TK2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12363 | TK2 | Zornitza Stark Mode of inheritance for gene: TK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12362 | TK2 | Zornitza Stark reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687801, 12391347, 12873860, 35286480, 35280287, 35094997; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | TK2 |
Zornitza Stark gene: TK2 was added gene: TK2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TK2 was set to Unknown |
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