Predominantly Antibody Deficiency
Gene: TRNT1
TRNT1 (tRNA nucleotidyl transferase 1)
EnsemblGeneIds (GRCh38): ENSG00000072756
EnsemblGeneIds (GRCh37): ENSG00000072756
OMIM: 612907, Gene2Phenotype
TRNT1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000072756
EnsemblGeneIds (GRCh37): ENSG00000072756
OMIM: 612907, Gene2Phenotype
TRNT1 is in 13 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndromic disorder characterized by onset of severe sideroblastic anaemia in the neonatal period or infancy. Affected individuals show delayed psychomotor development with variable neurodegeneration. Recurrent periodic fevers without an infectious etiology occur throughout infancy and childhood; immunologic work-up shows B-cell lymphopaenia and hypogammaglobulinaemia. Other more variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy.
> 10 families reported.Created: 9 Aug 2021, 1:53 a.m. | Last Modified: 9 Aug 2021, 1:53 a.m.
Panel Version: 0.127
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
Publications
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).Created: 21 Jul 2020, 8:35 a.m. | Last Modified: 21 Jul 2020, 8:35 a.m.
Panel Version: 0.74
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 612907
- Clinvar variants
- Variants in TRNT1
- Penetrance
- None
- Panels with this gene
-
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Common Variable Immunodeficiency
- Red cell disorders
- Predominantly Antibody Deficiency
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Autoinflammatory Disorders
- Vasculitis
- Mitochondrial disease
- Syndromic Retinopathy
- Intellectual disability syndromic and non-syndromic
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: TRNT1 was added gene: TRNT1 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TRNT1 was set to Unknown