Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.285 | ABI2 | Ida Ertmanska Publications for gene: ABI2 were set to 28397838; 39774290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.284 | ABI2 | Ida Ertmanska Phenotypes for gene: ABI2 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071; neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.283 | ABI2 | Ida Ertmanska Mode of inheritance for gene: ABI2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.282 | ABI2 | Ida Ertmanska Classified gene: ABI2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.282 | ABI2 | Ida Ertmanska Added comment: Comment on list classification: This gene will be recommended for a promotion to Green once the pre-print article is published. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.282 | ABI2 | Ida Ertmanska Gene: abi2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.281 | ABI2 | Ida Ertmanska edited their review of gene: ABI2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.281 | ABI2 | Ida Ertmanska reviewed gene: ABI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 40475134; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.214 | ABI2 |
Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:39774290 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. PMID:39774290 is a secondary publication and the relevant case described in this publication was originally from the primary publication PMID:28397838. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.214 | ABI2 | Achchuthan Shanmugasundram Publications for gene: ABI2 were set to 28397838; 39774290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.213 | ABI2 |
Achchuthan Shanmugasundram gene: ABI2 was added gene: ABI2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ABI2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABI2 were set to 28397838; 39774290 Phenotypes for gene: ABI2 were set to intellectual disability, MONDO:0001071 Review for gene: ABI2 was set to RED Added comment: PMID:28397838 reported the identification of variants in a cohort of 192 multiplex Pakistani and Iranian consanguineous families with non-syndromic ID by combining microarray genotyping, homozygosity-by-descent (HBD) mapping, copy number variation (CNV) analysis, and whole exome sequencing (WES). This study identified a patient with homozygous loss-of-function variant in ABI2 gene (p.(Arg132Ter)). This gene has not yet been associated with phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||