Bilateral congenital or childhood onset cataracts
Gene: GCNT2EnsemblGeneIds (GRCh38): ENSG00000111846
EnsemblGeneIds (GRCh37): ENSG00000111846
OMIM: 600429, Gene2Phenotype
GCNT2 is in 2 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Autosomal recessive cataractsCreated: 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)
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
GEL ()GCNT2 was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()GCNT2 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()GCNT2 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services