| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.2414 | TIMM29 | Zornitza Stark Marked gene: TIMM29 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2414 | TIMM29 | Zornitza Stark Gene: timm29 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2414 | TIMM29 | Zornitza Stark Classified gene: TIMM29 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2414 | TIMM29 | Zornitza Stark Gene: timm29 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2413 | TIMM29 |
Sangavi Sivagnanasundram gene: TIMM29 was added gene: TIMM29 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TIMM29 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TIMM29 were set to 40022150 Phenotypes for gene: TIMM29 were set to Sengers syndrome MONDO:0008922, TIMM29-related Review for gene: TIMM29 was set to RED Added comment: One large Arab family presenting with a range of clinical and biochemical phenotypes suggestive of Sengers Syndrome. Biallelic p.Trp172Arg was identified that segregated through the family - this variant is absent from gnomADv4.1 Knockdown drosophillia assay recapitulated the phenotype and pathology observed in the cohort of senger syndrome affected patients. Sources: Literature |
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