Osteopetrosis
Gene: TCIRG1
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
EnsemblGeneIds (GRCh38): ENSG00000110719
EnsemblGeneIds (GRCh37): ENSG00000110719
OMIM: 604592, Gene2Phenotype
TCIRG1 is in 13 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
>3 cases reported and supporting mouse model. Cases have been reported with immunodeficiency.
Sources: Expert listCreated: 19 Mar 2021, 12:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 1 MIM#259700
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Expert list
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 604592
- Clinvar variants
- Variants in TCIRG1
- Penetrance
- None
- 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
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 Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TCIRG1 was set to Unknown