Cytopenia - NOT Fanconi anaemia

Gene: TCIRG1

I don't know

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

• 24753205
• 35573728

I don't know

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

Created: 21 Aug 2023, 8:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital neutropenia

Publications

• 24753205