Cataracts

Gene: MAN2B1

Green List (high evidence)

MAN2B1 (mannosidase alpha class 2B member 1)
EnsemblGeneIds (GRCh38): ENSG00000104774
EnsemblGeneIds (GRCh37): ENSG00000104774
OMIM: 609458, Gene2Phenotype
MAN2B1 is in 11 panels

3 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Cataracts fairly common in alpha-mannosidosis.
Created: 7 Jun 2016, 1:12 p.m.

Sarah Waller (Manchester Centre for Genomic Medicine)

I don't know

Beck et al (2013) J Rare dis 8:88 4/44 patients had cataracts. Riise Steinland et al (2011) and others - mutations reported in several patients but no mention of cataracts. Mutations appear to be fully penetrant but cataracts do not appear to be predominant feature
Created: 25 May 2016, 8:11 a.m.

Publications

  • Riise Steinland et al (2011) Hum Mutat 33:511-520
  • Berg et al (1999) Am j Hum Genet 64:77-88
  • Gotoda et al (1998) Am J Hum Genet 63:1015-1024
  • and many others

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

I don't know

Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for LYSOSOMAL ALPHA-MANNOSIDOSIS (though I am unsure whether cataracts is a phenotype included in this).
Created: 29 Apr 2016, 12:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mannosidosis alpha- types I and II

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Mannosidosis alpha- types I and II
OMIM
609458
Clinvar variants
Variants in MAN2B1
Penetrance
Complete
Publications
  • Riise Steinland et al (2011) Hum Mutat 33:511-520
  • Berg et al (1999) Am j Hum Genet 64:77-88
  • Gotoda et al (1998) Am J Hum Genet 63:1015-1024
  • and many others
Panels with this gene

History Filter Activity

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Jun 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for MAN2B1 were set to Mannosidosis alpha- types I and II

2 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MAN2B1 were set to Riise Steinland et al (2011) Hum Mutat 33:511-520; Berg et al (1999) Am j Hum Genet 64:77-88; Gotoda et al (1998) Am J Hum Genet 63:1015-1024; and many others

2 Jun 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for MAN2B1 was changed to BIALLELIC, autosomal or pseudoautosomal

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MAN2B1 was added to Cataractspanel. Sources: UKGTN