1. Panels
  2. Vasculitis
  3. MBL2
STRs in panel
Prev Next
Regions in panel
Prev Next

Vasculitis

Gene: MBL2

Red List (low evidence)
MBL2 (mannose binding lectin 2)
EnsemblGeneIds (GRCh38): ENSG00000165471
EnsemblGeneIds (GRCh37): ENSG00000165471
OMIM: 154545, Gene2Phenotype
MBL2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Part of complement pathway and implicated in susceptibility to infections and autoimmunity but not a Mendelian disorder.
Created: 17 May 2022, 8:46 a.m. | Last Modified: 17 May 2022, 8:46 a.m.
Panel Version: 0.64

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Chronic infections, due to MBL deficiency} 614372

Created: 17 May 2022, 8:46 a.m.
Last Modified: 17 May 2022, 8:46 a.m.
Panel version: 0.64

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Chronic infections, due to MBL deficiency} 614372
OMIM
154545
Clinvar variants
Variants in MBL2
Penetrance
None
Panels with this gene

History Filter Activity

17 May 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mbl2 has been classified as Red List (Low Evidence).

17 May 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MBL2 were changed from to {Chronic infections, due to MBL deficiency} 614372

17 May 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MBL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 May 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mbl2 has been classified as Red List (Low Evidence).

17 May 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mbl2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MBL2 was added gene: MBL2 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MBL2 was set to Unknown