Clefting
Gene: FGFR1EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 20 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: removed Pfeiffer syndrome, 101600- no cases for cleftingCreated: 30 May 2017, 12:30 p.m.
Comment on publications: In Hartsfield syndrome, several patients with mutations in FGFR1 have clefts as a feature PMID:1342859, 14564207, 19504604. In Hypogonadotropic hypogonadism 2 with or without anosmia (also knowns as Kallmann syndrome 2) there are large numbers of patients with clefts as a feature PMID:12627230, 16606836, 25394172.Created: 30 May 2017, 12:29 p.m.
Comment on publications: In Hartsfield syndrome, several patients with mutations in FGFR1 have clefts as a feature PMID:1342859, 14564207, 19504604Created: 30 May 2017, 8:48 a.m.
Included only those associated disorders where clefting is reported as a feature (not included in this entry Encephalocraniocutaneous lipomatosis, Jackson-Weiss syndrome, Osteoglophonic dysplasia, Trigonocephaly 1)Created: 30 May 2017, 8:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hartsfield syndrome, 615465; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Pfeiffer syndrome, 101600
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- Hartsfield syndrome, 615465
- Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
- Kallmann syndrome 2
- OMIM
- 136350
- Clinvar variants
- Variants in FGFR1
- Penetrance
- Complete
- Publications
- 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
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for FGFR1 were set to Hartsfield syndrome, 615465; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Kallmann syndrome 2
Set publications
Louise Daugherty (Genomics England Curator)Publications for FGFR1 were set to 1342859; 14564207; 19504604; 12627230; 12627230; 16606836; 25394172
Set publications
Louise Daugherty (Genomics England Curator)Publications for FGFR1 were set to 1342859; 14564207; 19504604; 12627230; 12627230; 16606836; 25394172.
Set publications
Louise Daugherty (Genomics England Curator)Publications for FGFR1 were set to 1342859;14564207;19504604
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for FGFR1 were set to Hartsfield syndrome, 615465; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Kallmann syndrome 2; Pfeiffer syndrome, 101600
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for FGFR1 were set to Hartsfield syndrome, 615465; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Kallmann syndrome 2, 147950; Pfeiffer syndrome, 101600
Upload gene information
Louise Daugherty (Genomics England Curator)FGFR1 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene FGFR1 were set to Hartsfield syndrome, 615465; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Kallmann syndrome 2; Pfeiffer syndrome, 101600
Added New Source
Louise Daugherty (Genomics England Curator)FGFR1 was added to Cleftingpanel. Sources: Expert list
Created
Louise Daugherty (Genomics England Curator)FGFR1 was created by LouiseD