Clefting
Gene: FGFR1Comment 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
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Phenotypes for FGFR1 were set to Hartsfield syndrome, 615465; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Kallmann syndrome 2
Publications for FGFR1 were set to 1342859; 14564207; 19504604; 12627230; 12627230; 16606836; 25394172
Publications for FGFR1 were set to 1342859; 14564207; 19504604; 12627230; 12627230; 16606836; 25394172.
Publications for FGFR1 were set to 1342859;14564207;19504604
Phenotypes for FGFR1 were set to Hartsfield syndrome, 615465; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Kallmann syndrome 2; Pfeiffer syndrome, 101600
Phenotypes for FGFR1 were set to Hartsfield syndrome, 615465; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Kallmann syndrome 2, 147950; Pfeiffer syndrome, 101600
FGFR1 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Phenotypes for gene FGFR1 were set to Hartsfield syndrome, 615465; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Kallmann syndrome 2; Pfeiffer syndrome, 101600
FGFR1 was added to Cleftingpanel. Sources: Expert list
FGFR1 was created by LouiseD