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Cataract

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

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Mutations that specifically affect 1 of the 3 variants produced by the GCNT2 gene cause the rare adult i phenotype (OMIM# 110800), in which adult RBCs are rich in i antigen and contain low levels of I antigen. Mutations that eliminate all 3 GCNT2 variants cause the adult i phenotype with congenital cataractS. Multiple patients reported.
Created: 19 May 2022, 6:13 a.m. | Last Modified: 19 May 2022, 6:13 a.m.
Panel Version: 0.339

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cataract 13 with adult i phenotype, OMIM # 116700

Publications

Created: 19 May 2022, 6:13 a.m.
Last Modified: 19 May 2022, 6:13 a.m.
Panel version: 0.339

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cataract 13 with adult i phenotype, OMIM # 116700
OMIM
600429
Clinvar variants
Variants in GCNT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gcnt2 has been classified as Green List (High Evidence).

29 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GCNT2 were changed from to Cataract 13 with adult i phenotype, OMIM # 116700

29 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GCNT2 were set to

29 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GCNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GCNT2 was added gene: GCNT2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GCNT2 was set to Unknown