Congenital myopathy
Gene: GFER
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
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
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
Publications
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
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
Tag to_be_confirmed_NHSE tag was added to gene: GFER.
Gene: gfer has been classified as Amber List (Moderate Evidence).
Tag for-review was removed from gene: GFER.
Source Expert Review Green was added to GFER. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: GFER.
Gene: gfer has been classified as Amber List (Moderate Evidence).
Publications for gene: GFER were set to 19409522
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.
This gene has been classified as Red List (Low Evidence).
Publications for GFER were set to 19409522
Mode of inheritance for GFER was changed to BIALLELIC, autosomal or pseudoautosomal
GFER was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen