Paediatric disorders - additional genes
Gene: FGF5
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
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
Segregates with phenotype in two consanguineous families in publication attached. Additional unpublished case with same phenotype.
Sources: LiteratureCreated: 1 Dec 2021, 3:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypertrichosis; long eyelashes
Publications
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.
Source NHS GMS was added to FGF5.
Gene: fgf5 has been classified as Amber List (Moderate Evidence).
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.
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