Cataract
Gene: GBF1

GBF1 (golgi brefeldin A resistant guanine nucleotide exchange factor 1)
EnsemblGeneIds (GRCh38): ENSG00000107862
EnsemblGeneIds (GRCh37): ENSG00000107862
OMIM: 603698, Gene2Phenotype
GBF1 is in 3 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

1 missense in a multi-generational family.

however, this variant has 98 hets on gnomad v4 and low conservation (changes in 2 mammals and reptiles).

Using the human lens epithelium (HLE) cell line, we found that the p.T1287I mutation reduced GBF1 protein levels. Knockdown of endogenous GBF1 activated the unfolded protein response and enhanced autophagy, as well as increasing XBP1s protein levels and decreasing p-JNK1 protein levels. Heterozygous Gbf1 knockout (Gbf1+/-) mice also exhibited cataract malformation, while their littermate wild-type (Gbf1+/+) mice did not.
Sources: Literature
Created: 4 Sep 2024, 10:46 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
autosomal dominant cataract MONDO:0022672, GBF1-related

Publications

39110251

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

Created: 4 Sep 2024, 10:46 p.m.

Panel version: 0.369

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Literature

Phenotypes

autosomal dominant cataract MONDO:0022672, GBF1-related

OMIM

603698

Clinvar variants

Variants in GBF1

Penetrance

Complete

Publications

39110251

Panels with this gene

History Filter Activity

4 Sep 2024, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: gbf1 has been classified as Red List (Low Evidence).

4 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance