Cytopenia - NOT Fanconi anaemia
Gene: TCIRG1
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.Created: 7 Nov 2023, 7:52 p.m. | Last Modified: 7 Nov 2023, 7:52 p.m.
Panel Version: 3.13
PMID:24753205 reported a five generation family segregating a novel SNV in TCIRG1 (p.Arg736Ser) with congenital neutropenia. As reviewed by Hannah Knight, the same authors reported in 2022 (https://doi.org/10.1182/blood-2022-159214) of a new family identified in Taiwan to have a variant affecting the same amino acid (p.Arg736Cys). However, this was reported in a non-peer reviewed conference abstract.
PMID:35573728 - A seven years old patient suspected for Congenital Neutropenia, having symptoms related to chronic infections was reported with p.Val52Leu variant.
Monoallelic variants in this gene have not yet been associated with any phenotypes in OMIM or Gene2Phenotype, whereas biallelic variants are associated with Osteopetrosis (MIM #259700) in OMIM and present in several other panels.Created: 7 Nov 2023, 7:49 p.m. | Last Modified: 7 Nov 2023, 7:49 p.m.
Panel Version: 3.10
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
severe congenital neutropenia, MONDO:0018542
Publications
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: LiteratureCreated: 21 Aug 2023, 8:27 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital neutropenia
Publications
Tag watchlist tag was added to gene: TCIRG1.
Gene: tcirg1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TCIRG1 were changed from Congenital neutropenia to severe congenital neutropenia, MONDO:0018542
Publications for gene: TCIRG1 were set to 24753205
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