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| Mendeliome v2.0 | GLI1 | Gene migrated from ENSG00000111087 to ENSG00000111087 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5007 | TMEM161B |
Zornitza Stark gene: TMEM161B was added gene: TMEM161B was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TMEM161B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM161B were set to 37486637; 36669109; 36669111 Phenotypes for gene: TMEM161B were set to Neurodevelopmental disorder, MONDO:0700092, TMEM161B-related Review for gene: TMEM161B was set to GREEN Added comment: Fifteen individuals from eight families reported with biallelic TMEM161B variants causing diffuse polymicrogyria, seizures, microcephaly, hypotonia and intellectual disability. Functional studies include splice‑site RNA validation, GLI1 luciferase assays, mouse knockout, ferret knock‑down and patient‑derived organoid and fibroblast defects rescued by wild‑type TMEM161B or CDC42 in mouse knock‑in models. Sources: Literature |
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| Mendeliome v1.3634 | GLI1 | Lucy Spencer Phenotypes for gene: GLI1 were changed from Polydactyly, postaxial, type A8 MIM#618123; Polydactyly, preaxial I MIM#174400 to Postaxial polydactyly MONDO:0020927, GLI1-related; Polydactyly, postaxial, type A8 MIM#618123; Polydactyly, preaxial I MIM#174400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3633 | GLI1 | Lucy Spencer reviewed gene: GLI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Postaxial polydactyly MONDO:0020927, GLI1-related; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10313 | GLI1 | Zornitza Stark Marked gene: GLI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10313 | GLI1 | Zornitza Stark Gene: gli1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10313 | GLI1 | Zornitza Stark Classified gene: GLI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10313 | GLI1 | Zornitza Stark Gene: gli1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10312 | GLI1 |
Ain Roesley gene: GLI1 was added gene: GLI1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: GLI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GLI1 were set to 34721536; 31621941; 31549748; 30620395 Phenotypes for gene: GLI1 were set to Polydactyly, postaxial, type A8 MIM#618123; Polydactyly, preaxial I MIM#174400 Penetrance for gene: GLI1 were set to unknown Review for gene: GLI1 was set to GREEN gene: GLI1 was marked as current diagnostic Added comment: >10 unrelated probands reported, both AD and AR reported Sources: Literature |
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