Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: ITGAM
Not associated with monogenic diseaseCreated: 20 Jun 2018, 7:52 p.m.
Comment on list classification: Changed from Amber to Red, no published cases of immunodeficiency to date. Red review from external expert review. Referred back to GRID and Victorian Clinical Genetics Services for evidences.Created: 27 Jun 2018, 9:53 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 supplied by GRID. GRID Gene Symbol HGNC PanelApp check: ITGAM, GRID_Gene_Symbol: ITGAM, GRID_Transcript_ENS_Community submitted: ENST00000544665, GRID_Transcript_RefSeq: NM_001145808.1, GRID_Transcript_ENS_used_on_Production: ENST00000544665Created: 17 Apr 2018, 12:12 p.m.
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.
Gene: itgam has been classified as Red List (Low Evidence).
Gene: itgam has been classified as Red List (Low Evidence).
Victorian Clinical Genetics Services was added to ITGAM. Panel: Primary immunodeficiency disorders
Phenotypes for ITGAM were set to Systemic lupus erythematous
Expert Review Amber was added to ITGAM. Panel: Primary immunodeficiency disorders
Phenotypes for gene ITGAM were set to Systemic lupus erythematous, Systemic lupus erythematous
ITGAM was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
ITGAM was created by Louise Daugherty