Hypogonadotropic hypogonadism
Gene: FGF8

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

5 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: The majority of cases in OMIM are heterozygous, though one report found a homozygous variant.
Created: 18 Jul 2016, 9:04 a.m.

Created: 18 Jul 2016, 9:04 a.m.

Panel version: 0.153

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 2/4 sources. Five variants reported, four as heterozygotes and one as homozygote. Three reviewers recommend Green
Created: 13 Oct 2016, 7:51 a.m.

Created: 26 May 2016, 8:48 a.m.

Panel version: 0.13

Richard Quinton (Newcastle University)

Green List (high evidence)

Created: 24 May 2016, 1 p.m.

Panel version: 0.2

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Created: 24 May 2016, 12:18 p.m.

Panel version: 0.2

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Created: 21 May 2016, 1:15 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
OMIM

Phenotypes

Hypogonadotropic hypogonadism 6 with or without anosmia, 612702
Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory)

OMIM

600483

Clinvar variants

Variants in FGF8

Penetrance

Complete

Publications

18596921

Panels with this gene

History Filter Activity

28 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

28th Oct 2016: This panel was revised after external expert review and internal discussion. For several genes that have been shown to contribute to the disorder in a digenic/polygenic manner, the decision was made to only include genes as green if biallelic variants had been reported independently from other genes. Genes with a monoallelic mechanism, that have been shown in some studies in conjunction with variants in other genes, were made red as monoallelic variants in these genes may not provide a complete diagnosis.

18 Jul 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for FGF8 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

7 Jun 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for FGF8 were set to 18596921

26 May 2016, Gel status: 4