Congenital myopathy

Gene: GFER

Amber List (moderate evidence)

GFER (growth factor, augmenter of liver regeneration)
EnsemblGeneIds (GRCh38): ENSG00000127554
EnsemblGeneIds (GRCh37): ENSG00000127554
OMIM: 600924, Gene2Phenotype
GFER is in 14 panels

5 reviews

Sarah Leigh (Genomics England Curator)

I don't know

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)

Green List (high evidence)

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)

Red List (low evidence)

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)

Red List (low evidence)

Comment when marking as ready: Three siblings from one family only. Insufficient evidence
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
Tags
to_be_confirmed_NHSE
OMIM
600924
Clinvar variants
Variants in GFER
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Mar 2022, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag to_be_confirmed_NHSE tag was added to gene: GFER.

17 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gfer has been classified as Amber List (Moderate Evidence).

9 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: GFER.

9 Mar 2022, Gel status: 3

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)

21 Jan 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: GFER.

16 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: gfer has been classified as Amber List (Moderate Evidence).

16 Dec 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GFER were set to 19409522

22 Feb 2017, Gel status: 1

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.

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Feb 2017, Gel status: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for GFER were set to 19409522

3 Feb 2017, Gel status: 1

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for GFER was changed to BIALLELIC, autosomal or pseudoautosomal

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

GFER was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen