Genomics England

TRNT1

tRNA nucleotidyl transferase 1

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD), retinitis pigmentosa with erythrocytic microcytosis
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD), retinitis pigmentosa with erythrocytic microcytosis
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084, Retinitis pigmentosa and erythrocytic microcytosis, 616959
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 9.91	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 4.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, sideroblastic anaemia
Green in Retinal disorders R-numbers: R32 Signed-off version 9.14	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