Cataracts

Gene: GCNT2

Green List (high evidence)

GCNT2 (glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group))
EnsemblGeneIds (GRCh38): ENSG00000111846
EnsemblGeneIds (GRCh37): ENSG00000111846
OMIM: 600429, Gene2Phenotype
GCNT2 is in 2 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Autosomal recessive cataracts
Created: 25 May 2016, 8:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adult i Blood Group With or Without Congenital Cataract; [Blood group, Ii], 110800

Publications

  • Yu et al (2001) Blood 98:3840-3845
  • Pras et al (2004) Invest Ophthalmol 45:1940-5

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

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: Promoted to green due to expert review.
Created: 31 May 2016, 9:53 a.m.
Is on the Manchester congenital cataracts gene panel. Is associated with both the Adult i phenotype without cataract and Cataract 13 with adult i phenotype in OMIM.
Created: 22 Apr 2016, 5:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Adult i Blood Group With or Without Congenital Cataract
  • [Blood group, Ii], 110800
OMIM
600429
Clinvar variants
Variants in GCNT2
Penetrance
Complete
Publications
  • Yu et al (2001) Blood 98:3840-3845
  • Pras et al (2004) Invest Ophthalmol 45:1940-5
Panels with this gene

History Filter Activity

31 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

31 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GCNT2 were set to Yu et al (2001) Blood 98:3840-3845; Pras et al (2004) Invest Ophthalmol 45:1940-5

31 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

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: 3

Added New Source

GEL ()

GCNT2 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

GCNT2 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

GCNT2 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services