Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: EXTL3Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.Created: 14 Oct 2020, 12:45 p.m. | Last Modified: 14 Oct 2020, 12:45 p.m.
Panel Version: 2.247
The following PubMed IDs were added to gene EXTL3 (OMIM gene MIM#605744): 28148688;28132690. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208
Publications
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
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: Gene added to panel as green after confirmation from the clinical team. There are more than 3 families reported for immunoskeletal dysplasia with neurodevelopmental abnormalities, with different variants.Created: 18 Sep 2017, 10:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425
Publications
Phenotypes for gene: EXTL3 were changed from Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425; EXTL3 deficiency; Platyspondyly, kyphosis, variable skeletal dysplasias, developmental delay; Combined immunodeficiencies with associated or syndromic features to Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425
Gene: extl3 has been classified as Green List (High Evidence).
Source Other was added to EXTL3. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source NHS GMS was added to EXTL3.
Source North West GLH was added to EXTL3.
Source London North GLH was added to EXTL3.
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 EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425, EXTL3 deficiency, Platyspondyly, kyphosis, variable skeletal dysplasias, developmental delay, Combined immunodeficiencies with associated or syndromic features
IUIS Classification February 2018 was added to EXTL3. Panel: Primary immunodeficiency disorders
Gene: extl3 has been classified as Green List (High Evidence).
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425; EXTL3 deficiency
Gene: extl3 has been classified as Green List (High Evidence).
EXTL3 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, A- or hypo-gammaglobulinaemia v1.25
EXTL3 was created by Louise Daugherty