FGF8

fibroblast growth factor 8
OMIM: 600483, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green FGF8 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.26

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • hypopituitarism, absent corpus callosum, Holoprosencephaly, Moebius syndrome, craniofacial defects, high arched palate, maxillary hypoplasia, microcepahly, spastic diplegia

Green FGF8 in Pituitary hormone deficiency


Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center
Phenotypes
  • Hypogonadotropic hypogonadism 6 with or without anosmia (612702)

Green FGF8 in Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.26

review 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)

Green FGF8 in Hypogonadotropic hypogonadism idiopathic


Version 0.27

review 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)

Green FGF8 in Holoprosencephaly

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.14

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Holoprosencephaly

Red FGF8 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.165

review Unknown
Sources
  • Expert Review Red
Phenotypes
  • Numerous variants reported in Hypogonadotropic hypogonadism 6 with or without anosmia 612702, but this phenotype is not relevant to this panel.

Green FGF8 in Fetal anomalies


Version 0.285

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 6 with or without anosmia 612702

Red FGF8 in Growth failure in early childhood


Version 0.60

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • hypopituitarism, absent corpus callosum, Holoprosencephaly, Moebius syndrome, craniofacial defects, high arched palate, maxillary hypoplasia, microcepahly, spastic diplegia