Genomics England

TRNT1

tRNA nucleotidyl transferase 1

Panel	Mode of inheritance	Details
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Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	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 - targeted testing not possible 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 4.78	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: - Childhood onset leukodystrophy Signed-off version 4.114	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 3.69	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 4.123	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
Green in Retinal disorders R-numbers: R32 Signed-off version 4.42	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