Activity
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10 actions
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| Monogenic hearing loss v1.55 | TBC1D24 | Louise Daugherty Publications for gene: TBC1D24 were set to 10574461; 10741954; 20727515; 20797691; 21087195; 22211675; 23343562; 23526554; 24291220; 24387994; 24729539; 24729547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.54 | TBC1D24 | Louise Daugherty Classified gene: TBC1D24 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.54 | TBC1D24 | Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.54 | TBC1D24 | Louise Daugherty Gene: tbc1d24 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.53 | TBC1D24 | Louise Daugherty Mode of inheritance for gene: TBC1D24 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.52 | TBC1D24 | Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.52 | TBC1D24 | Louise Daugherty Publications for gene: TBC1D24 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.51 | TBC1D24 | Louise Daugherty Phenotypes for gene: TBC1D24 were changed from Deafness , autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044; DOORS syndrome, 220500; deafness, onychodystrophy, osteodystrophy, and mental retardation to Deafness, autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044; DOORS syndrome, 220500; deafness, onychodystrophy, osteodystrophy, and mental retardation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.50 | TBC1D24 | Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes that indicate relevance to inclusion on the Hearing loss panel from OMIM. removed: Myoclonic epilepsy, infantile, familial, 605021;Myoclonicepilepsy,infantile,familial,605021Epilepticencephalopathy,earlyinfantile,16,615338 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.50 | TBC1D24 | Louise Daugherty Phenotypes for gene: TBC1D24 were changed from Myoclonic epilepsy, infantile, familial, 605021; Myoclonicepilepsy,infantile,familial,605021Epilepticencephalopathy,earlyinfantile,16,615338 to Deafness , autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044; DOORS syndrome, 220500; deafness, onychodystrophy, osteodystrophy, and mental retardation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||