Pituitary hormone deficiency
Gene: FGF8
FGF8 (fibroblast growth factor 8)
EnsemblGeneIds (GRCh38): ENSG00000107831
EnsemblGeneIds (GRCh37): ENSG00000107831
OMIM: 600483, Gene2Phenotype
FGF8 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000107831
EnsemblGeneIds (GRCh37): ENSG00000107831
OMIM: 600483, Gene2Phenotype
FGF8 is in 8 panels
1 review
Ivone Leong (Genomics England Curator)
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Jan 2019, 12:01 p.m.
Comment on list classification: Promoted from red to green. FGF8 is confirmed to be associated with Hypogonadotropic hypogonadism 6 with or without anosmia on OMIM only. It is a green gene in the IUGR and IGF abnormalities panel (Version 1.25). There are 3 unrelated cases of patients with Hypogonadotropic hypogonadism who have variants in FGF8.Created: 10 Dec 2018, 3:44 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Radboud University Medical Center
- Phenotypes
-
- Hypogonadotropic hypogonadism 6 with or without anosmia (612702)
- OMIM
- 600483
- Clinvar variants
- Variants in FGF8
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
30 Jan 2019, Gel status: 3
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Comment on list classification
8 Jan 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).
10 Dec 2018, Gel status: 3
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: fgf8 has been classified as Green List (High Evidence).
10 Dec 2018, Gel status: 1
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: FGF8 were set to
7 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: FGF8 was added gene: FGF8 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia (612702)