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Primary immunodeficiency

Gene: MBL2

Amber List (moderate evidence)

MBL2 (mannose binding lectin 2)
EnsemblGeneIds (GRCh38): ENSG00000165471
EnsemblGeneIds (GRCh37): ENSG00000165471
OMIM: 154545, Gene2Phenotype
MBL2 is in 3 panels

2 reviews

Sophie Hambleton (Newcastle University)

I don't know

Does not cause Mendelian disease but genotype influences infection risk and is widely screened for at present
Created: 23 Oct 2019, 7:10 a.m. | Last Modified: 23 Oct 2019, 7:10 a.m.
Panel Version: 1.132

Louise Daugherty (Genomics England Curator)

I don't know

Chronic infections due to MBL deficiency: 5% Europeans, 10% sub-saharan Africans, mostly unaffected. Increased risk of infections - is it useful clinically or if undergoing immunosuppression? Is it tested for clinically at present
Created: 26 Sep 2019, 3:57 p.m. | Last Modified: 26 Sep 2019, 3:57 p.m.
Panel Version: 1.130
relevant to 5-10% of the population and that there are three specific missense variants described. Rated Amber.
Created: 26 Sep 2019, 3:34 p.m. | Last Modified: 26 Sep 2019, 3:34 p.m.
Panel Version: 1.127
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: MBL2 GRID_Gene_Symbol: MBL2 GRID_Transcript_ENS_Community submitted: ENST00000373968 GRID_Transcript_RefSeq: NM_000242.2 GRID_Transcript_ENS_used_on_Production: ENST00000373968
Created: 26 Sep 2019, 10:21 a.m. | Last Modified: 26 Sep 2019, 10:21 a.m.
Panel Version: 1.120
Original metadata downloaded from ESID Registry. ESID_Gene_original: MBL, PanelApp HGNC gene symbol check: MBL2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Mannose-binding lectin (MBL) / Mannose-binding lectin deficiency (MBL)
Created: 26 Sep 2019, 8:43 a.m. | Last Modified: 26 Sep 2019, 8:43 a.m.
Panel Version: 1.120

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • ESID Registry 20171117
  • Expert Review Amber
  • Inherited complement deficiency v0.11
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Mannose-Binding Protein Deficiency, 614372
  • Chronic infections, due to MBL deficiency
  • Mannose-binding lectin deficiency (MBL)
Tags
curated-variant-list
OMIM
154545
Clinvar variants
Variants in MBL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2019, Gel status: 2

Added Tag

Louise Daugherty (Genomics England Curator)

Tag curated-variant-list tag was added to gene: MBL2.

17 Sep 2019, Gel status: 2

Added New Source, Added New Source, Added New Source, Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Inherited complement deficiency v0.11 was added to MBL2. Source Expert Review Amber was added to MBL2. Source ESID Registry 20171117 was added to MBL2. Source GRID V2.0 was added to MBL2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

17 Sep 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: MBL2 were set to

17 Sep 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MBL2 were changed from to Mannose-Binding Protein Deficiency, 614372; Chronic infections, due to MBL deficiency; Mannose-binding lectin deficiency (MBL)

17 Sep 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: MBL2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to MBL2.

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MBL2.

17 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MBL2 was added gene: MBL2 was added to Primary immunodeficiency. Sources: North West GLH Mode of inheritance for gene: MBL2 was set to