Limb disorders
Gene: FGFR1EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 20 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in these phenotypes.Created: 12 Jul 2016, 7:07 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Encephalocraniocutaneous lipomatosis, somatic mosaism 613001; Hartsfield syndrome 615465; Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Jackson-Weiss syndrome 123150; Osteoglophonic dysplasia 166250; Pfeiffer syndrome 101600; Trigonocephaly 1 190440
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert Review Green
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- Encephalocraniocutaneous lipomatosis, somatic mosaism, 613001
- Hartsfield syndrome, 615465
- Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
- Jackson-Weiss syndrome, 123150
- Osteoglophonic dysplasia, 166250
- Pfeiffer syndrome,101600
- Trigonocephaly 1,190440
- Polydactyly
- OMIM
- 136350
- Clinvar variants
- Variants in FGFR1
- Penetrance
- None
- Panels with this gene
-
- Limb disorders
- Hypogonadotropic hypogonadism (GMS)
- DDG2P
- Fetal anomalies
- 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
- Pituitary hormone deficiency
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Holoprosencephaly - NOT chromosomal
- Hypophosphataemia or rickets
- Intellectual disability
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 1
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to FGFR1. Panel: Limb disorders Phenotypes for gene FGFR1 were set to Encephalocraniocutaneous lipomatosis, somatic mosaism, 613001, Hartsfield syndrome, 615465, Hypogonadotropic hypogonadism 2 with or without anosmia, 147950, Jackson-Weiss syndrome, 123150, Osteoglophonic dysplasia, 166250, Pfeiffer syndrome,101600, Trigonocephaly 1,190440, Polydactyly
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for FGFR1 were set to Encephalocraniocutaneous lipomatosis, somatic mosaism, 613001; Hartsfield syndrome, 615465; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Jackson-Weiss syndrome, 123150; Osteoglophonic dysplasia, 166250; Pfeiffer syndrome,101600; Trigonocephaly 1,190440
Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to FGFR1. Panel: Limb disorders UKGTN was added to FGFR1. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to FGFR1. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to FGFR1. Panel: Limb disorders Expert list was added to FGFR1. Panel: Limb disorders Emory Genetics Laboratory was added to FGFR1. Panel: Limb disorders Model of inheritance for gene FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to FGFR1. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)FGFR1 was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)FGFR1 was created by Ellen McDonagh