TRNT1:Ensemblv115

tRNA nucleotidyl transferase 1
OMIM: 612907, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green TRNT1 in Vasculitis Level 2: Immunological disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green TRNT1 in Predominantly Antibody Deficiency Level 2: Immunological disorders Version 2.0	2 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green
Green TRNT1 in Common Variable Immunodeficiency Level 2: Immunological disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084
Green TRNT1 in Autoinflammatory Disorders Level 2: Immunological disorders Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Phenotypes Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
Green TRNT1 in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Retinitis pigmentosa and erythrocytic microcytosis
Green TRNT1 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources RetNet Expert Review Green Phenotypes Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
Green TRNT1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3)
Green TRNT1 in Red cell disorders Level 2: Haematological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Expert Review Green Phenotypes Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
Green TRNT1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM #616084
Amber TRNT1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084 Tags treatable immunological