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Mendeliome

Gene: TRNT1

Green List (high evidence)

TRNT1 (tRNA nucleotidyl transferase 1)
EnsemblGeneIds (GRCh38): ENSG00000072756
EnsemblGeneIds (GRCh37): ENSG00000072756
OMIM: 612907, Gene2Phenotype
TRNT1 is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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.

RP with erythrocytic microcytosis is a milder disorder. At least 3 unrelated individuals reported. Spectrum rather than distinct disorders?
Created: 9 Apr 2022, 7:09 a.m. | Last Modified: 9 Apr 2022, 7:09 a.m.
Panel Version: 0.12801

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959; Sideroblastic anemia 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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
OMIM
612907
Clinvar variants
Variants in TRNT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trnt1 has been classified as Green List (High Evidence).

9 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRNT1 were changed from to Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084

9 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRNT1 were set to

9 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRNT1 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: TRNT1 was added gene: TRNT1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRNT1 was set to Unknown