TRNT1

tRNA nucleotidyl transferase 1
OMIM: 612907
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
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:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
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 3.105
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 5.3
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 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, sideroblastic anaemia
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM:616084