Cataracts

Gene: GFER

Red List (low evidence)

GFER (growth factor, augmenter of liver regeneration)
EnsemblGeneIds (GRCh38): ENSG00000127554
EnsemblGeneIds (GRCh37): ENSG00000127554
OMIM: 600924, Gene2Phenotype
GFER is in 13 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

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

Ellen McDonagh (Genomics England Curator)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076
OMIM
600924
Clinvar variants
Variants in GFER
Penetrance
Complete
Publications
  • Di Fonzo et al (2009) Am J Hum Genet 84:594-604
Panels with this gene

History Filter Activity

3 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Jun 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GFER was changed to BIALLELIC, autosomal or pseudoautosomal

3 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GFER were set to Di Fonzo et al (2009) Am J Hum Genet 84:594-604

2 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

GFER was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen