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Mendeliome

Gene: TCIRG1

Green List (high evidence)

TCIRG1 (T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3)
EnsemblGeneIds (GRCh38): ENSG00000110719
EnsemblGeneIds (GRCh37): ENSG00000110719
OMIM: 604592, Gene2Phenotype
TCIRG1 is in 13 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England)

Green List (high evidence)

Biallelic variants in this gene have already been associated with Osteopetrosis (MIM #259700) in OMIM and present in several other panels. However, monoallelic variants in this gene have not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype. There are patients reported with monoallelic TCIRG1 variants and congenital neutropenia.

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.
Created: 8 Nov 2023, 11:40 a.m. | Last Modified: 8 Nov 2023, 11:40 a.m.
Panel Version: 1.1361

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
severe congenital neutropenia, MONDO:0018542

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 26 Mar 2022, 2:17 a.m. | Last Modified: 26 Mar 2022, 2:17 a.m.
Panel Version: 0.11966

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 1, MIM# 259700

Publications

Details

History Filter Activity

26 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tcirg1 has been classified as Green List (High Evidence).

26 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TCIRG1 were changed from to Osteopetrosis, autosomal recessive 1, MIM# 259700

26 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TCIRG1 were set to

26 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TCIRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TCIRG1 was added gene: TCIRG1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TCIRG1 was set to Unknown