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  3. GFER
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Cataract

Gene: GFER

Green List (high evidence)
GFER (growth factor, augmenter of liver regeneration)
EnsemblGeneIds (GRCh38): ENSG00000127554
EnsemblGeneIds (GRCh37): ENSG00000127554
OMIM: 600924, Gene2Phenotype
GFER is in 7 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Additional paper in 2017 brings the total count up to 8 cases from 4 unrelated families (PMID: 28155230).
Created: 8 Jul 2020, 6:53 a.m. | Last Modified: 8 Jul 2020, 6:53 a.m.
Panel Version: 0.201
One family (3 sibs born to healthy consang parents) described with progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay had a homozygous missense variant (PMID:19409522).

Studies of patient fibroblasts and muscle tissue showed: a reduction in complex I, II, and IV activity; a lower cysteine-rich protein content; abnormal ultrastructural morphology of the mitochondria, with enlargement of the IMS space; and accelerated time-dependent accumulation of multiple mtDNA deletions. Additional functional studies in yeast also showed mitochondrial defects.
Sources: Literature
Created: 8 Jul 2020, 6:46 a.m. | Last Modified: 8 Jul 2020, 6:50 a.m.
Panel Version: 0.201

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

Created: 8 Jul 2020, 6:46 a.m.
Last Modified: 8 Jul 2020, 6:53 a.m.
Panel version: 0.201

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay MIM#613076
OMIM
600924
Clinvar variants
Variants in GFER
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: gfer has been classified as Green List (High Evidence).

8 Jul 2020, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: GFER were set to 19409522; 25269795

8 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: gfer has been classified as Green List (High Evidence).

8 Jul 2020, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: GFER was added gene: GFER was added to Cataract. Sources: Literature Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFER were set to 19409522; 25269795 Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay MIM#613076 Review for gene: GFER was set to AMBER gene: GFER was marked as current diagnostic