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Mendeliome

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

PMID: 38622837 - Now a 3rd case with metabolic abnormalities, symptoms of digestive tract dysfunction, infection, dehydration, and seizures. No developmental delay reported. There is a lot of variability in the phenotype of the 3 cases reported to date.
Created: 10 Nov 2024, 4 a.m. | Last Modified: 10 Nov 2024, 4 a.m.
Panel Version: 1.2122

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Achchuthan Shanmugasundram (Genomics England)

I don't know

PMID:35637269 describes a second case of a patient with developmental delay and dysmorphic features, but no immune phenotype with compound heterozygous variants (p.Ser147del and p.Glu790Lys).
Created: 1 Nov 2023, 11:19 p.m. | Last Modified: 1 Nov 2023, 11:19 p.m.
Panel Version: 1.1330

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported.
Sources: Literature
Created: 1 May 2020, 12:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation; immunodeficiency

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related
  • immunodeficiency
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 31775018; 35637269

2 Nov 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Nov 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAN2B2 were set to 31775018

2 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 May 2020, 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).

1 May 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAN2B2 was added gene: MAN2B2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B2 were set to 31775018 Phenotypes for gene: MAN2B2 were set to Congenital disorder of glycosylation; immunodeficiency Review for gene: MAN2B2 was set to RED