Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: RNASEH2B
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 2 variants reported in at least 7 unrelated families.Created: 22 May 2018, 4:47 p.m.
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): RNASEH2B .PanelApp HGNC gene symbol check: RNASEH2B . IUIS Disease: RNASEH2B deficiency, AGS2 . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Classical AGS, SP. IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Type 1 InterferonopathiesCreated: 2 Jul 2018, 10:35 a.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, 3:41 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: RNASEH2B, PanelApp HGNC gene symbol check: RNASEH2B, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Diseases of immune dysregulation / Type 1 interferonopathies / Type 1 interferonopathiesCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: RNASEH2B, GRID_Gene_Symbol: RNASEH2B, GRID_Transcript_ENS_Community submitted: ENST00000336617, GRID_Transcript_RefSeq: NM_001142279.2, GRID_Transcript_ENS_used_on_Production: ENST00000336617Created: 17 Apr 2018, 12:12 p.m.
Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2 610181; Type 1 interferonopathies; Classical AGS, SP; Autoinflammatory Disorders to Aicardi-Goutieres syndrome 2, OMIM:610181
Source NHS GMS was added to RNASEH2B.
Source North West GLH was added to RNASEH2B.
Source London North GLH was added to RNASEH2B.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Phenotypes for gene RNASEH2B were set to Aicardi-Goutieres syndrome 2 610181, Type 1 interferonopathies, Classical AGS, SP, Autoinflammatory Disorders
IUIS Classification February 2018 was added to RNASEH2B. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to RNASEH2B. Panel: Primary immunodeficiency disorders
Gene: rnaseh2b has been classified as Green List (High Evidence).
Mode of inheritance for RNASEH2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for RNASEH2B were set to Aicardi-Goutieres syndrome 2 610181; Type 1 interferonopathies
This gene has been classified as Green List (High Evidence).
Publications for RNASEH2B were set to 16845400; 25243380
This gene has been classified as Amber List (Moderate Evidence).
ESID Registry 20171117 was added to RNASEH2B. Panel: Primary immunodeficiency disorders Phenotypes for gene RNASEH2B were set to Aicardi-Goutieres syndrome 2, Type 1 interferonopathies
Phenotypes for gene RNASEH2B were set to Aicardi-Goutieres syndrome 2
RNASEH2B was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
RNASEH2B was created by Louise Daugherty