Differences in sex development
Gene: FGFR1EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 20 panels
1 review
Rabina Akhtar (West Midlands Genomics Laboratory)
PMID:41108094 reports a 14 year old male patient with micropenis, hypoplasia of the testes and angulation of the penis and was found to have a likely pathogenic FGFR1 c.263_264del p.Val88Alafs*22.
PMID:34589657 reports a 7 year old male patient with history of bilateral cryptorchidism and was found to have a pathogenic FGFR1 c.1955A>C p.His652pro.
PMID: 32853167 reports a 16 year old male with micropenis and bilateral cryptorchidism and was found to have a FGFR1 c.1864C>T p.Arg622*
Additional male patient identified at WMGL with bilateral cryptorchidism and micropenis was found to have FGFR1 c.2008G>A p.Glu670Lys
Sources: Literature, ResearchCreated: 4 Feb 2026, 1:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypogonadotropic hypogonadism 2 with out without anosmia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- Hypogonadotropic hypogonadism 2 with out without anosmia
- OMIM
- 136350
- Clinvar variants
- Variants in FGFR1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Limb disorders
- DDG2P
- Hypogonadotropic hypogonadism (GMS)
- Intellectual disability
- Holoprosencephaly - NOT chromosomal
- Differences in sex development
- Monogenic short stature
- Common craniosynostosis syndromes
- Osteogenesis imperfecta
- Clefting
- Hydrocephalus
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Mosaic skin disorders - deep sequencing
- Monogenic hearing loss
- Fetal anomalies
- Pituitary hormone deficiency
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hypophosphataemia or rickets
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Rabina Akhtar (West Midlands Genomics Laboratory)gene: FGFR1 was added gene: FGFR1 was added to Differences in sex development. Sources: Literature,Research Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGFR1 were set to (PMID: 41108094; 34589657; 32853167) Phenotypes for gene: FGFR1 were set to Hypogonadotropic hypogonadism 2 with out without anosmia Penetrance for gene: FGFR1 were set to Complete Review for gene: FGFR1 was set to GREEN gene: FGFR1 was marked as current diagnostic