TRNT1

tRNA nucleotidyl transferase 1
OMIM: 612907
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD), retinitis pigmentosa with erythrocytic microcytosis
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD), retinitis pigmentosa with erythrocytic microcytosis
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084, Retinitis pigmentosa and erythrocytic microcytosis, 616959
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD), Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084, congenital sideroblastic anemia, deafness, developmental delay, Predominantly Antibody Deficiencies
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, sideroblastic anaemia