Bilateral congenital or childhood onset cataracts

Gene: GFER

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 8 Mar 2022, 9:09 a.m. | Last Modified: 8 Mar 2022, 9:09 a.m.

Panel Version: 2.98

Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to promote this gene from Red to Green. This gene should be made Green at the next review.

Created: 16 Dec 2020, 11:17 a.m. | Last Modified: 16 Dec 2020, 11:17 a.m.

Panel Version: 2.36

Green List (high evidence)

8 individuals from 4 families reported.

Created: 8 Jul 2020, 7:39 a.m. | Last Modified: 8 Jul 2020, 7:39 a.m.

Panel Version: 2.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay MIM#613076

Publications

• 19409522
• 25269795
• 28155230

I don't know

Mutation found in only 1 family. Functional analysis demonstrated pathogenic mechanism (Ceh-Pavia et al (2014) Biochem J 464:449-459).

Created: 2 Jun 2016, 1:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076

Publications

• Di Fonzo et al (2009) Am J Hum Genet 84:594-604

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

Red List (low evidence)

Comment on list classification: Demoted to red due to only one family report.

Created: 3 Jun 2016, 7:55 a.m.

Not on the Manchester congenital cataracts gene panel. Is a possible DD gene for MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY. One variant reported in OMIM identified in 3 children from consanguineous Moroccan parents.

Created: 29 Apr 2016, 11:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal