| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Intellectual disability - microarray and sequencing v3.1469 | IBA57 | Arina Puzriakova Phenotypes for gene: IBA57 were changed from Multiple mitochondrial dysfunctions syndrome 3, 615330; intellectual disability, seizures, loss of milestones to Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.465 | IBA57 | Louise Daugherty Classified gene: IBA57 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.465 | IBA57 | Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.465 | IBA57 | Louise Daugherty Gene: iba57 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.464 | IBA57 |
Louise Daugherty gene: IBA57 was added gene: IBA57 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IBA57 were set to 28671726; 23462291; 25971455; 28913435; 27785568 Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, 615330; intellectual disability, seizures, loss of milestones Review for gene: IBA57 was set to GREEN Added comment: New gene suggested by external expert (and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green Sources: Expert list |
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