Possible mitochondrial disorder - nuclear genes
Gene: GFER
GFER (growth factor, augmenter of liver regeneration)
EnsemblGeneIds (GRCh38): ENSG00000127554
EnsemblGeneIds (GRCh37): ENSG00000127554
OMIM: 600924, Gene2Phenotype
GFER is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000127554
EnsemblGeneIds (GRCh37): ENSG00000127554
OMIM: 600924, Gene2Phenotype
GFER is in 12 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076
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.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076
- OMIM
- 600924
- Clinvar variants
- Variants in GFER
- Penetrance
- None
- Panels with this gene
-
- Monogenic hearing loss
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Undiagnosed metabolic disorders
- DDG2P
- Structural eye disease
- Arthrogryposis
- Mitochondrial disorders
History Filter Activity
4 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: GFER was added gene: GFER was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076