Hypogonadotropic hypogonadism (GMS)
Gene: FGFR1EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 20 panels
2 reviews
Simon Thomas (Wessex Regional Genetics Laboratory)
Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- South West GLH
- Phenotypes
-
- Hypogonadotropic hypogonadism type 2(OMIM 147950)
- OMIM
- 136350
- Clinvar variants
- Variants in FGFR1
- Penetrance
- None
- Panels with this gene
-
- Limb disorders
- Hypogonadotropic hypogonadism (GMS)
- DDG2P
- Differences in sex development
- Clefting
- Monogenic short stature
- Common craniosynostosis syndromes
- Osteogenesis imperfecta
- Hydrocephalus
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Mosaic skin disorders - deep sequencing
- Monogenic hearing loss
- Skeletal dysplasia
- Fetal anomalies
- Pituitary hormone deficiency
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Holoprosencephaly - NOT chromosomal
- Hypophosphataemia or rickets
- Intellectual disability
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: fgfr1 has been classified as Green List (High Evidence).
Added New Source
Ivone Leong (Genomics England Curator)Source Wessex and West Midlands GLH was added to FGFR1.
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Hypogonadotropic hypogonadism type 2(OMIM 147950) for gene: FGFR1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: FGFR1 was added gene: FGFR1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: FGFR1 was set to BIALLELIC, autosomal or pseudoautosomal