Congenital muscular dystrophy and congenital myopathy
Gene: GFEREnsemblGeneIds (GRCh38): ENSG00000127554
EnsemblGeneIds (GRCh37): ENSG00000127554
OMIM: 600924, Gene2Phenotype
GFER is in 12 panels
6 reviews
Arina Puzriakova (Genomics England Curator)
After further consideration by the expert group, the rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 2 May 2024, 3:45 p.m. | Last Modified: 2 May 2024, 3:45 p.m.
Panel Version: 0.229
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
- NHS GMS
- 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
-
- 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
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag to_be_confirmed_NHSE was removed from gene: GFER.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to GFER. Source Expert Review Green was added to GFER. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: GFER was added gene: GFER was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert Review Amber,Radboud University Medical Center, Nijmegen to_be_confirmed_NHSE tags were added to gene: GFER. Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFER were set to 19409522; 28155230 Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, OMIM:613076 Penetrance for gene: GFER were set to Complete