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Intellectual disability

Gene: GFER

Green List (high evidence)

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

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient cases, appropriate phenotype
Created: 5 Mar 2018, 11:47 a.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: changed from Red to Green, there is enough evidence in the literature to support ID being associated to variants of this gene. Last OMIM update was 2009, there have been more recent papers published to support association to the disorder, which includes developmental delay, and this is reflected in pathogenic variants ClinVar
Created: 1 Mar 2018, 6:41 p.m.
Comment on publications: added publications to support ID phenotype, there are more than three unrelated cases with ID. PMID: 19409522 (2009) describes 3 siblings of a consanguineous Moroccan family. Their phenotype included congenital cataracts, hypotonia, developmental delay, and sensorineural hearing loss and in PMID: 26018198 (20015) noted another unrelated case who was moderately cognitively delayed. More recently PMID: 28155230 (2017) two more unrelated cases were reported with severe/profound ID and global delay
Created: 1 Mar 2018, 6:23 p.m.
This gene is also a possible DD gene in Gene2Phenotype for MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD)
Created: 1 Mar 2018, 6:17 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Phenotypes
MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

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

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to GFER. Panel: Intellectual disability Model of inheritance for gene GFER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene GFER was set to ['19409522', '26018198', '28155230']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GFER was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GFER was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen