Genomics England
GMS Panels
Panels
Genes and Entities

FGF8

fibroblast growth factor 8
OMIM: 600483
PanelMode of inheritanceDetails
4 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypogonadotropic hypogonadism 6 with or without anosmia 612702
Green
in Holoprosencephaly - NOT chromosomal
Component of the following Super Panels:
  • - Cerebral malformation
R-numbers: R85
Signed-off version 5.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Holoprosencephaly
Green
in Hypogonadotropic hypogonadism (GMS)
R-numbers: R148
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypogonadotropic hypogonadism type 6 (OMIM 612702)
Green
in Pituitary hormone deficiency
R-numbers: R159
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypogonadotropic hypogonadism 6 with or without anosmia (612702)