Hypogonadotropic hypogonadism idiopathic

Gene: FGF8

Green List (high evidence)

FGF8 (fibroblast growth factor 8)
EnsemblGeneIds (GRCh38): ENSG00000107831
EnsemblGeneIds (GRCh37): ENSG00000107831
OMIM: 600483, Gene2Phenotype
FGF8 is in 9 panels

2 reviews

Simon Thomas (Wessex Regional Genetics Laboratory)

Green List (high evidence)

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hypogonadotropic hypogonadism type 6 (OMIM 612702)
OMIM
600483
Clinvar variants
Variants in FGF8
Penetrance
None
Panels with this gene

History Filter Activity

22 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: fgf8 has been classified as Green List (High Evidence).

22 Mar 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source Wessex and West Midlands GLH was added to FGF8.

15 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Hypogonadotropic hypogonadism type 6 (OMIM 612702) for gene: FGF8

15 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: FGF8 was added gene: FGF8 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: FGF8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal