Bilateral congenital or childhood onset cataracts
Gene: GFERThe 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
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
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
Variants in this GENE are reported as part of current diagnostic practice
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
Tag for-review was removed from gene: GFER.
Source Expert Review Green was added to GFER. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: gfer has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: GFER were changed from Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, OMIM:613076 to Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, OMIM:613076
Tag for-review tag was added to gene: GFER.
Phenotypes for gene: GFER were changed from Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, OMIM:613076
Publications for gene: GFER were set to Di Fonzo et al (2009) Am J Hum Genet 84:594-604
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for GFER was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
Publications for GFER were set to Di Fonzo et al (2009) Am J Hum Genet 84:594-604
This gene has been classified as Amber List (Moderate Evidence).
GFER was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen