Mitochondrial disorders
Gene: GFER

GFER (growth factor, augmenter of liver regeneration)
EnsemblGeneIds (GRCh38): ENSG00000127554
EnsemblGeneIds (GRCh37): ENSG00000127554
OMIM: 600924, Gene2Phenotype
GFER is in 12 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Carl Fratter also confirmed this should be green.
Created: 7 Mar 2016, 6:01 p.m.

Created: 7 Mar 2016, 6:01 p.m.

Panel version: 0.495

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:31 a.m.

Panel version: 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green
Radboud University Medical Center, Nijmegen
Expert list
Expert

Phenotypes

Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Disorders of the mitochondrial import system
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076

OMIM

600924

Clinvar variants

Variants in GFER

Penetrance

Complete

Publications

PMID: 26018198
19409522

Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to GFER. Panel: Mitochondrial disorders

7 Mar 2016, Gel status: 4