Pituitary hormone deficiency
Gene: FGFR1EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 20 panels
2 reviews
Eleanor Williams (Genomics England Curator)
Review from Professor Dattani confirms that this gene should be green.Created: 17 Sep 2022, 3:45 p.m. | Last Modified: 17 Sep 2022, 3:45 p.m.
Panel Version: 2.43
Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S,Dattani MT, Pitteloud N.J Clin Endocrinol Metab. 2012 Apr;97(4):E694-9. doi: 10.1210/jc.2011-2938. Epub 2012 Feb 8.PMID: 22319038Created: 14 Sep 2022, 4:44 p.m. | Last Modified: 17 Sep 2022, 3:45 p.m.
Panel Version: 2.43
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CLEFT LIP/PALATE, OPTIC NERVE HYPOPLASIA
Ivone Leong (Genomics England Curator)
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Jan 2019, 12:01 p.m.
Comment on list classification: Promoted from amber to green. FGFR1 is confirmed to be associated with the listed phenotypes in both OMIM and Gene2Phenotype. It is a green gene in the IUGR and IGF abnormalities (Version 1.25), Hypogonadotropic hypogonadism (Version 1.15) and Holoprosencephaly (Version 1.6) panels. There are 3 unrelated cases of patients with growth hormone deficiency who have variants in the FGFR1 gene.Created: 10 Dec 2018, 4:06 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center
- Emory Genetics Laboratory
- Phenotypes
-
- Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950
- Hartsfield syndrome, OMIM:615465
- Pfeiffer syndrome, OMIM:101600
- Jackson-Weiss syndrome, OMIM:123150
- OMIM
- 136350
- Clinvar variants
- Variants in FGFR1
- Penetrance
- None
- 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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: FGFR1 were changed from Hypogonadotropic hypogonadism 2 with or without anosmia (147950); Hartsfield syndrome (615465); Pfeiffer syndrome (101600); Jackson-Weiss syndrome (123150) to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Hartsfield syndrome, OMIM:615465; Pfeiffer syndrome, OMIM:101600; Jackson-Weiss syndrome, OMIM:123150
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Comment on list classification
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: fgfr1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: fgfr1 has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: FGFR1 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: FGFR1 was added gene: FGFR1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia (147950); Hartsfield syndrome (615465); Pfeiffer syndrome (101600); Jackson-Weiss syndrome (123150)