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| Regression v0.161 | TGM6 |
Zornitza Stark Tag disputed was removed from gene: TGM6. Tag refuted tag was added to gene: TGM6. |
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| Regression v0.161 | TGM6 | Zornitza Stark Phenotypes for gene: TGM6 were changed from to Spinocerebellar ataxia 35, MIM# 613908 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.160 | TGM6 | Zornitza Stark Publications for gene: TGM6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.159 | TGM6 | Zornitza Stark Mode of inheritance for gene: TGM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.158 | TGM6 | Zornitza Stark Classified gene: TGM6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.158 | TGM6 | Zornitza Stark Gene: tgm6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.157 | TGM6 | Zornitza Stark Tag disputed tag was added to gene: TGM6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.157 | TGM6 |
Zornitza Stark edited their review of gene: TGM6: Added comment: Recent publication refutes the association of this gene with SCA: In a Chinese exome sequencing cohort, 8 families were identified with reported TGM6 variants sharing no features of SCA35. These variants were significantly more common in the East Asian gnomAD sub-population than in other ethnic groups (P < 0.0001). Gene constraint metrics showed that both missense and loss-of-function variants in TGM6 are likely to be tolerated and there is no regional constraint. Inflation analysis demonstrated that the cumulative frequency of TGM6 reported pathogenic variants is at least 111-fold inflated over disease prevalence of all autosomal dominant SCAs, indicating a high chance of misdiagnosis or low penetrance.; Changed publications: 30670339, 32426513 |
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| Regression v0.157 | TGM6 | Zornitza Stark reviewed gene: TGM6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 35, MIM# 613908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.0 | TGM6 |
Zornitza Stark gene: TGM6 was added gene: TGM6 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TGM6 was set to Unknown |
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