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Paediatric disorders - additional genes

Gene: FGF5

Amber List (moderate evidence)
FGF5 (fibroblast growth factor 5)
EnsemblGeneIds (GRCh38): ENSG00000138675
EnsemblGeneIds (GRCh37): ENSG00000138675
OMIM: 165190, Gene2Phenotype
FGF5 is in 2 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. Additional comments from reviewing GLHs: 'Ok to include this gene in panel, but not sure if maybe more evidence needed to upgrade to green (C&S)'
Created: 31 Jan 2023, 10:54 a.m. | Last Modified: 31 Jan 2023, 10:54 a.m.
Panel Version: 2.7
Created: 31 Jan 2023, 10:54 a.m.
Last Modified: 31 Jan 2023, 10:54 a.m.
Panel version: 2.7

Eleanor Williams (Genomics England Curator)

This gene was originally added to the DDG2P panel but this gene is not present in the Developmental Disorders panel in the Gene2Phenotype resource which DDG2P panel reflects.

After review by a Genomics England clinician it was decided that this may be the best place for this gene as there is no specific hypertrichosis panel. Rating amber but with a recommendation for green rating if after GMS review it is considered appropriate for this panel.
Created: 8 Jun 2022, 11:46 p.m. | Last Modified: 8 Jun 2022, 11:47 p.m.
Panel Version: 1.98
Created: 8 Jun 2022, 11:46 p.m.
Last Modified: 8 Jun 2022, 11:47 p.m.
Panel version: 1.98

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Segregates with phenotype in two consanguineous families in publication attached. Additional unpublished case with same phenotype.
Sources: Literature
Created: 1 Dec 2021, 3:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypertrichosis; long eyelashes

Publications

Created: 1 Dec 2021, 3:37 p.m.

Copied from panel: DDG2P v2.74

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypertrichosis
  • long eyelashes
OMIM
165190
Clinvar variants
Variants in FGF5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 Jan 2023, Gel status: 2

Removed Tag, Removed Tag, Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_NHS_review was removed from gene: FGF5. Tag Q2_22_rating was removed from gene: FGF5. Tag Q2_22_phenotype was removed from gene: FGF5. Tag Q2_22_expert_review was removed from gene: FGF5.

31 Jan 2023, Gel status: 2

Added New Source

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to FGF5.

8 Jun 2022, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: fgf5 has been classified as Amber List (Moderate Evidence).

8 Jun 2022, Gel status: 1

Added Tag, Added Tag, Added Tag, Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_NHS_review tag was added to gene: FGF5. Tag Q2_22_rating tag was added to gene: FGF5. Tag Q2_22_phenotype tag was added to gene: FGF5. Tag Q2_22_expert_review tag was added to gene: FGF5.

8 Jun 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Eleanor Williams (Genomics England Curator)

gene: FGF5 was added gene: FGF5 was added to Paediatric disorders - additional genes. Sources: Literature Mode of inheritance for gene: FGF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGF5 were set to PMID: 24989505 Phenotypes for gene: FGF5 were set to Hypertrichosis; long eyelashes Penetrance for gene: FGF5 were set to Complete