Bilateral congenital or childhood onset cataracts
Gene: GCNT2
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
Variants in this GENE are reported as part of current diagnostic practice
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
This gene has been classified as Green List (High Evidence).
Publications for GCNT2 were set to Yu et al (2001) Blood 98:3840-3845; Pras et al (2004) Invest Ophthalmol 45:1940-5
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
GCNT2 was added to Cataractspanel. Sources: UKGTN
GCNT2 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
GCNT2 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services