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Primary immunodeficiency

Gene: FERMT3

Green List (high evidence)

FERMT3 (fermitin family member 3)
EnsemblGeneIds (GRCh38): ENSG00000149781
EnsemblGeneIds (GRCh37): ENSG00000149781
OMIM: 607901, Gene2Phenotype
FERMT3 is in 7 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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): FERMT3 .PanelApp HGNC gene symbol check: FERMT3 . IUIS Disease: Leukocyte adhesion deficiency type 3 (LAD3) . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N + M + L + NK. IUIS Associated features: LAD type 1 plus bleeding tendency. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Defects of Motility
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed from Amber to Green enough evidence to support immune dysfunction, more than three unrelated cases and pathogenic variants
Created: 19 Jun 2018, 12:53 p.m.
Immunological clinical phenotypes include: Leukocytosis, Recurrent bacterial infections, Fungal infections, Defective neutrophil adhesion to endothelial cells.
Created: 19 Jun 2018, 12:52 p.m.
added early-onset tag
Created: 19 Jun 2018, 12:50 p.m.
Comment on publications: added publications to support phenotype
Created: 19 Jun 2018, 12:34 p.m.
previous approved gene symbol KIND3
Created: 19 Jun 2018, 12:26 p.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: LAD3, PanelApp HGNC gene symbol check: FERMT3, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Leukocyte adhesion deficiency (LAD) / Leukocyte adhesion deficiency (LAD)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: FERMT3, GRID_Gene_Symbol: FERMT3, GRID_Transcript_ENS_Community submitted: ENST00000279227, GRID_Transcript_RefSeq: NM_178443.2, GRID_Transcript_ENS_used_on_Production: ENST00000279227
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Leukocyte adhesion deficiency, type III, 612840
  • LAD
  • LAD type 1 plus bleeding tendency
  • Congenital defects of phagocyte number or function
Tags
early-onset
OMIM
607901
Clinvar variants
Variants in FERMT3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to FERMT3.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to FERMT3.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to FERMT3.

12 Jul 2018, Gel status: 4

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.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene FERMT3 were set to Leukocyte adhesion deficiency, type III, 612840, LAD, LAD type 1 plus bleeding tendency, Congenital defects of phagocyte number or function

27 Jun 2018, Gel status: 4

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: fermt3 has been classified as Green List (High Evidence).

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to FERMT3. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to FERMT3. Panel: Primary immunodeficiency disorders

19 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: fermt3 has been classified as Green List (High Evidence).

19 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FERMT3 were set to 17185466; 12511588; 19234463; 20357244; 21441448; 27749372; 26729028

19 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FERMT3 were set to 17185466; 12511588; 19234463; 20357244; 21441448

19 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, 612840; LAD

20 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FERMT3 were set to Leukocyte adhesion deficiency, type III; LAD

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to FERMT3. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to FERMT3. Panel: Primary immunodeficiency disorders Phenotypes for gene FERMT3 were set to Leukocyte adhesion deficiency, type III, Leukocyte adhesion deficiency (LAD)

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene FERMT3 were set to Leukocyte adhesion deficiency, type III

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

FERMT3 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

FERMT3 was created by Louise Daugherty