Phagocyte Defects
Gene: TCIRG1EnsemblGeneIds (GRCh38): ENSG00000110719
EnsemblGeneIds (GRCh37): ENSG00000110719
OMIM: 604592, Gene2Phenotype
TCIRG1 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Biallelic variants in this gene have already been associated with Osteopetrosis (MIM #259700).
Newer reports of individuals 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.
PMID:35573728 - A seven years old patient suspected for Congenital Neutropenia, having symptoms related to chronic infections was reported with p.Val52Leu variant.
Sources: Expert ReviewCreated: 9 Nov 2023, 2:42 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
severe congenital neutropenia, MONDO:0018542
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- severe congenital neutropenia, MONDO:0018542
- OMIM
- 604592
- Clinvar variants
- Variants in TCIRG1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Macrocephaly_Megalencephaly
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Fetal anomalies
- Defects of intrinsic and innate immunity
- Additional findings_Paediatric
- Prepair 1000+
- Phagocyte Defects
- Mendeliome
- BabyScreen+ newborn screening
- Osteopetrosis
- Prepair 500+
- Hydrocephalus_Ventriculomegaly
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tcirg1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tcirg1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TCIRG1 was added gene: TCIRG1 was added to Phagocyte Defects. Sources: Expert Review Mode of inheritance for gene: TCIRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TCIRG1 were set to 24753205; 35573728 Phenotypes for gene: TCIRG1 were set to severe congenital neutropenia, MONDO:0018542 Review for gene: TCIRG1 was set to AMBER