Congenital myopathy
Gene: GFEREnsemblGeneIds (GRCh38): ENSG00000127554
EnsemblGeneIds (GRCh37): ENSG00000127554
OMIM: 600924, Gene2Phenotype
GFER is in 12 panels
6 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Mar 2025, 6:35 p.m. | Last Modified: 5 Mar 2025, 6:35 p.m.
Panel Version: 5.14
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.Created: 26 Sep 2024, 10:39 a.m. | Last Modified: 26 Sep 2024, 10:39 a.m.
Panel Version: 4.42
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.Created: 17 Mar 2022, 10:41 a.m. | Last Modified: 17 Mar 2022, 10:41 a.m.
Panel Version: 2.80
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 support a gene-disease association and this gene should be considered Green at the next review. This gene has been promoted to Amber and tagged with "for-review".Created: 16 Dec 2020, 11:27 a.m. | Last Modified: 16 Dec 2020, 11:27 a.m.
Panel Version: 2.10
Zornitza Stark (Australian Genomics)
At least 8 individuals from four families.Created: 10 Jun 2020, 1:30 a.m. | Last Modified: 10 Jun 2020, 1:30 a.m.
Panel Version: 2.5
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
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
Publications
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Three siblings from one family only. Insufficient evidenceCreated: 3 Feb 2017, 12:01 p.m.
Only three siblings from one family reported. Insufficient evidence.Created: 30 Jan 2017, 4:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 613076
Publications
- PMID 19409522
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, OMIM:613076
- OMIM
- 600924
- Clinvar variants
- Variants in GFER
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Congenital myopathy
- Structural eye disease
- Arthrogryposis
- Monogenic hearing loss
- Intellectual disability
- Undiagnosed metabolic disorders
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: gfer has been classified as Green List (High Evidence).
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag to_be_confirmed_NHSE was removed from gene: GFER.
Set Phenotypes
Arina Puzriakova (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 and developmental delay, OMIM:613076
Added Tag
Sarah Leigh (Genomics England Curator)Tag to_be_confirmed_NHSE tag was added to gene: GFER.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: gfer has been classified as Amber List (Moderate Evidence).
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: GFER.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to GFER. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: GFER.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: gfer has been classified as Amber List (Moderate Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: GFER were set to 19409522
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for GFER were set to 19409522
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for GFER was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
GEL ()GFER was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen