Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: ATM
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
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): ATM .PanelApp HGNC gene symbol check: ATM . IUIS Disease: Ataxia-telangiectasia . IUIS Inheritance: AR .T cells: N/A, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Ataxia, telangiectasia, pulmonary infections, lymphoreticular and other malignancies, increased alpha fetoprotein, increased radiosensitivity, chromosomal instability and chromosomal translocations. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: DNA Repair Defects other than those listed in Table 1Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: changed from Amber to Green after internal clinical review. It was felt there is probably a sufficient immunological phenotype to make this disorder relevant to this panel, accepting that there is an associated cancer risk. If a diagnosis is made, this will make a difference to cancer treatment options / screening in view of the risks and sensitivity to ionising radiation.Created: 11 May 2018, 3:36 p.m.
Comment on publications: added PMID:27884168 (2016) reviewCreated: 11 May 2018, 12:13 p.m.
To be discussed with clinical team as to whether this is further demoted to Red. Enough cases and PID relevant but Ataxia-telangiectasia is associated to increased risk to cancerCreated: 11 May 2018, 12:04 p.m.
Comment on phenotypes: added PID phenotypeCreated: 11 May 2018, 11:59 a.m.
from orphanet: Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.Created: 11 May 2018, 11:58 a.m.
Comment on phenotypes: added OMIM MIMidCreated: 11 May 2018, 11:52 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: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: ATM, PanelApp HGNC gene symbol check: ATM, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Other well defined PIDs / DNA-breakage disorder / Ataxia telangiectasia (ATM)Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: ATM, GRID_Gene_Symbol: ATM, GRID_Transcript_ENS_Community submitted: ENST00000278616, GRID_Transcript_RefSeq: NM_000051.3, GRID_Transcript_ENS_used_on_Production: ENST00000278616Created: 17 Apr 2018, 12:12 p.m.
Phenotypes for gene: ATM were changed from Ataxia-telangiectasia, 208900; Ataxia telangiectasia (ATM); immunodeficiency; Ataxia, telangiectasia, pulmonary infections, lymphoreticular and other malignancies, increased alpha fetoprotein, increased radiosensitivity, chromosomal instability and chromosomal translocations; Combined immunodeficiencies with associated or syndromic features to Ataxia-telangiectasia, OMIM:208900; Combined immunodeficiencies with associated or syndromic features; Ataxia, telangiectasia, pulmonary infections, lymphoreticular and other malignancies, increased alpha fetoprotein, increased radiosensitivity, chromosomal instability and chromosomal translocations
Source NHS GMS was added to ATM.
Source North West GLH was added to ATM.
Source London North GLH was added to ATM.
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 ATM were set to Ataxia-telangiectasia, 208900, Ataxia telangiectasia (ATM), immunodeficiency, Ataxia, telangiectasia, pulmonary infections, lymphoreticular and other malignancies, increased alpha fetoprotein, increased radiosensitivity, chromosomal instability and chromosomal translocations, Combined immunodeficiencies with associated or syndromic features
IUIS Classification February 2018 was added to ATM. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to ATM. Panel: Primary immunodeficiency disorders
Gene: atm has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for ATM were set to 27884168; 2005780; 2136770; 7792600; 27421701
Phenotypes for ATM were set to Ataxia-telangiectasia, 208900; Ataxia telangiectasia (ATM); immunodeficiency
Phenotypes for ATM were set to Ataxia-telangiectasia, 208900; Ataxia telangiectasia (ATM); immunodeficiency
Phenotypes for ATM were set to Ataxia-telangiectasia, 208900; Ataxia telangiectasia (ATM)
Expert Review Amber was added to ATM. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to ATM. Panel: Primary immunodeficiency disorders Phenotypes for gene ATM were set to Ataxia-telangiectasia, Ataxia telangiectasia (ATM)
Phenotypes for gene ATM were set to Ataxia-telangiectasia
ATM was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
ATM was created by Louise Daugherty