Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: TRNT1

Green List (high evidence)

agree with green gene

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Green List (high evidence)

YES- this is covered on our targeted exome

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Green List (high evidence)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TRNT1 .PanelApp HGNC gene symbol check: TRNT1 . IUIS Disease: TRNT1 deficiency . IUIS Inheritance: AR .T cells: Decreased or normal,, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: congenital sideroblastic anemia, deafness, developmental delay. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype

Created: 2 Jul 2018, 10:35 a.m.

Comment on list classification: Changed Amber to Green from external expert review and further publications to support gene-disease association

Created: 27 Jun 2018, 6:59 p.m.

Comment on publications: Added publication to support gene-disease association. More than three pathogenic variants found more than three unrelated cases.

Created: 27 Jun 2018, 6:58 p.m.

from Orphanet: congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.

Created: 27 Jun 2018, 6:57 p.m.

This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s)
GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.

Created: 19 Apr 2018, 11:10 a.m.

Original metadata downloaded from ESID Registry. ESID_Gene_original: TNRT1, PanelApp HGNC gene symbol check: TRNT1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Other well defined PIDs / Congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD) / Congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Created: 17 Apr 2018, 12:29 p.m.

Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: TRNT1, GRID_Gene_Symbol: TRNT1, GRID_Transcript_ENS_Community submitted: ENST00000251607, GRID_Transcript_RefSeq: NM_001302946.1, GRID_Transcript_ENS_used_on_Production: ENST00000251607

Created: 17 Apr 2018, 12:12 p.m.