Pituitary hormone deficiency

Gene: FGFR1

Green List (high evidence)

FGFR1 (fibroblast growth factor receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 20 panels

1 review

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 (147950)
  • Hartsfield syndrome (615465)
  • Pfeiffer syndrome (101600)
  • Jackson-Weiss syndrome (123150)
OMIM
136350
Clinvar variants
Variants in FGFR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Comment on list classification

8 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: fgfr1 has been classified as Green List (High Evidence).

10 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: fgfr1 has been classified as Green List (High Evidence).

10 Dec 2018, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: FGFR1 were set to

7 Dec 2018, Gel status: 2

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)