Hypertrichosis syndromes
Gene: FGF5EnsemblGeneIds (GRCh38): ENSG00000138675
EnsemblGeneIds (GRCh37): ENSG00000138675
OMIM: 165190, Gene2Phenotype
FGF5 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two families reported, aware of additional unpublished case.
Sources: LiteratureCreated: 3 Dec 2021, 6:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypertrichosis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Hypertrichosis
- OMIM
- 165190
- Clinvar variants
- Variants in FGF5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fgf5 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fgf5 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FGF5 was added gene: FGF5 was added to Hypertrichosis syndromes. Sources: Literature Mode of inheritance for gene: FGF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGF5 were set to 24989505 Phenotypes for gene: FGF5 were set to Hypertrichosis Review for gene: FGF5 was set to GREEN