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Cataracts

Gene: GFER

Amber List (moderate evidence)

GFER (growth factor, augmenter of liver regeneration)
EnsemblGeneIds (GRCh38): ENSG00000127554
EnsemblGeneIds (GRCh37): ENSG00000127554
OMIM: 600924, Gene2Phenotype
GFER is in 14 panels

4 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

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

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 Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, OMIM:613076
Tags
for-review
OMIM
600924
Clinvar variants
Variants in GFER
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: gfer has been classified as Amber List (Moderate Evidence).

16 Dec 2020, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

16 Dec 2020, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: GFER.

15 Dec 2020, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

15 Dec 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

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

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