Genes in panel
STRs in panel
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Primary immunodeficiency

Gene: ITGAM

Red List (low evidence)

ITGAM (integrin subunit alpha M)
EnsemblGeneIds (GRCh38): ENSG00000169896
EnsemblGeneIds (GRCh37): ENSG00000169896
OMIM: 120980, Gene2Phenotype
ITGAM is in 3 panels

2 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Not associated with monogenic disease
Created: 20 Jun 2018, 7:52 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

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: ENST00000544665
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Systemic lupus erythematous
OMIM
120980
Clinvar variants
Variants in ITGAM
Penetrance
None
Panels with this gene

History Filter Activity

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

27 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: itgam has been classified as Red List (Low Evidence).

27 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: itgam has been classified as Red List (Low Evidence).

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to ITGAM. Panel: Primary immunodeficiency disorders

20 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ITGAM were set to Systemic lupus erythematous

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to ITGAM. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene ITGAM were set to Systemic lupus erythematous, Systemic lupus erythematous

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

ITGAM was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

ITGAM was created by Louise Daugherty