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  3. MASP2
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Vasculitis

Gene: MASP2

Red List (low evidence)
MASP2 (mannan binding lectin serine peptidase 2)
EnsemblGeneIds (GRCh38): ENSG00000009724
EnsemblGeneIds (GRCh37): ENSG00000009724
OMIM: 605102, Gene2Phenotype
MASP2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

MASP2 deficiency affects ~4% of Caucasians, most are asymptomatic, some link to increased risk of autoimmune conditions.
Created: 11 Apr 2020, 3:56 a.m. | Last Modified: 11 Apr 2020, 3:56 a.m.
Panel Version: 0.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MASP2 deficiency, MIM# 613791

Created: 11 Apr 2020, 3:56 a.m.
Last Modified: 11 Apr 2020, 3:56 a.m.
Panel version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • MASP2 deficiency, MIM# 613791
OMIM
605102
Clinvar variants
Variants in MASP2
Penetrance
None
Panels with this gene

History Filter Activity

11 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: masp2 has been classified as Red List (Low Evidence).

11 Apr 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MASP2 were changed from to MASP2 deficiency, MIM# 613791

11 Apr 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MASP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

11 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: masp2 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: MASP2 was added gene: MASP2 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MASP2 was set to Unknown