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  3. MAN2B2
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Combined Immunodeficiency

Gene: MAN2B2

Amber List (moderate evidence)
MAN2B2 (mannosidase alpha class 2B member 2)
EnsemblGeneIds (GRCh38): ENSG00000013288
EnsemblGeneIds (GRCh37): ENSG00000013288
MAN2B2 is in 3 panels

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Now 3 unrelated cases reported with MAN2B2-CDG, one with combined immunodeficiency, one with immune dysregulation, and one without an immune phenotype
Created: 10 Nov 2024, 3:50 a.m. | Last Modified: 10 Nov 2024, 3:50 a.m.
Panel Version: 1.80

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related

Publications

Created: 10 Nov 2024, 3:50 a.m.
Last Modified: 10 Nov 2024, 3:50 a.m.
Panel version: 1.80

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related

Created: 13 Jul 2022, 8:22 a.m.
Last Modified: 13 Jul 2022, 8:22 a.m.
Panel version: 1.15

Peter McNaughton (Queensland Children's Hospital)

Red List (low evidence)

Single syndromic patient with combined immune deficiency
Sources: Literature
Created: 12 Jul 2022, 4:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined Immune deficiency

Publications

Created: 12 Jul 2022, 4:44 a.m.

Panel version: 1.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related
  • Combined Immune deficiency
Clinvar variants
Variants in MAN2B2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Nov 2024, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: MAN2B2 were set to PMID: 31775018

10 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: man2b2 has been classified as Amber List (Moderate Evidence).

13 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: man2b2 has been classified as Red List (Low Evidence).

13 Jul 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAN2B2 were changed from Combined Immune deficiency to Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related; Combined Immune deficiency

13 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: man2b2 has been classified as Red List (Low Evidence).

12 Jul 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Peter McNaughton (Queensland Children's Hospital)

gene: MAN2B2 was added gene: MAN2B2 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B2 were set to PMID: 31775018 Phenotypes for gene: MAN2B2 were set to Combined Immune deficiency Review for gene: MAN2B2 was set to RED