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| Cytopenia - NOT Fanconi anaemia v3.13 | TCIRG1 | Achchuthan Shanmugasundram Tag watchlist tag was added to gene: TCIRG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.13 | TCIRG1 | Achchuthan Shanmugasundram Classified gene: TCIRG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.13 | TCIRG1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are three cases reported so far, only two of these cases were reported in peer-reviewed publications. Hence, this gene is currently rated amber. In addition, watchlist tag has been added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.13 | TCIRG1 | Achchuthan Shanmugasundram Gene: tcirg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.12 | TCIRG1 | Achchuthan Shanmugasundram Phenotypes for gene: TCIRG1 were changed from Congenital neutropenia to severe congenital neutropenia, MONDO:0018542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.11 | TCIRG1 | Achchuthan Shanmugasundram Publications for gene: TCIRG1 were set to 24753205 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.10 | TCIRG1 | Achchuthan Shanmugasundram reviewed gene: TCIRG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24753205, 35573728; Phenotypes: severe congenital neutropenia, MONDO:0018542; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.2 | TCIRG1 |
Hannah Knight gene: TCIRG1 was added gene: TCIRG1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature Mode of inheritance for gene: TCIRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TCIRG1 were set to 24753205 Phenotypes for gene: TCIRG1 were set to Congenital neutropenia Penetrance for gene: TCIRG1 were set to unknown Review for gene: TCIRG1 was set to AMBER Added comment: A specific, novel variant in TCIRG1 (R736S) identified as the probable cause for SCN in a large multigenerational family through exome sequencing (Makaryan et al. 2014 - PMID 24753205) In 2022, a new family identified in Taiwan to have a variant affecting the same amino acid (R736C) - https://doi.org/10.1182/blood-2022-159214 Sources: Literature |
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