Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.205 | ATAD2B | Arina Puzriakova commented on gene: ATAD2B: PMID: 39313616 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.205 | ATAD2B |
Arina Puzriakova gene: ATAD2B was added gene: ATAD2B was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ATAD2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATAD2B were set to 39313616 Phenotypes for gene: ATAD2B were set to intellectual disability, MONDO:0001071 Added comment: PMID: 39313616 - two unrelated individuals were identified with biallelic variants in the ATAD2B gene. One patient had an affected sibling with the same genotype and a similar phenotype. A fourth individual with biallelic variants was also identified in GeneDx. All had developmental delay or cognitive impairment but otherwise had distinct phenotypes (with exception of the sibs) (summary in Supplementary Table 6). Given the lack of phenotypic overlap, more evidence is required to implicate ATAD2B and therefore rating Red until more evidence emerges. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | GATAD2B | BRIDGE consortium edited their review of GATAD2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | GATAD2B | BRIDGE consortium reviewed GATAD2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||