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| DDG2P v2.78 | RAP1GDS1 | Eleanor Williams Tag curated_removed tag was added to gene: RAP1GDS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.78 | RAP1GDS1 | Eleanor Williams changed review comment from: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated based on updates to that resource. The expert reviewer has also reviewed this gene on the Intellectual disability panel in PanelApp, which is part of the Paediatric disorders super panel so this gene will not be missed out of the super panel.; to: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated based on updates to that resource. It is not currently listed on the DD panel. The expert reviewer has also reviewed this gene on the Intellectual disability panel in PanelApp, which is part of the Paediatric disorders super panel so this gene will not be missed out of the super panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.77 | RAP1GDS1 | Eleanor Williams commented on gene: RAP1GDS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.50 | RAP1GDS1 |
Dmitrijs Rots gene: RAP1GDS1 was added gene: RAP1GDS1 was added to DDG2P. Sources: Literature Mode of inheritance for gene: RAP1GDS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAP1GDS1 were set to PMID: 33875846 Phenotypes for gene: RAP1GDS1 were set to Intellectual disability, developmental delay Review for gene: RAP1GDS1 was set to GREEN Added comment: Additional cases (three with same splice variant, which segregates in one family) and one frameshift variant reported in PMID: 33875846. Cases seem to overlap ones reported in PMID: 32431071. Sources: Literature |
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