Fetal anomalies
Gene: FGFR1

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Include on basis of Pfeiffer syndrome (MIM:101600).
Created: 29 Apr 2019, 12:28 p.m.

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.

DDG2P rating in original PAGE list: Confirmed for OSTEOGLOPHONIC DYSPLASIA, Confirmed for KALLMANN SYNDROME TYPE 2, Confirmed for PFEIFFER SYNDROME, Confirmed for IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM, Confirmed for Encephalocraniocutaneous lipomatosis, and Confirmed for Hartsfield syndrome.
Created: 11 Dec 2018, 9:04 a.m.

Mosaicism tag added based on original PAGE file which records Mosaic MOI for Encephalocraniocutaneous lipomatosis.
Created: 8 Nov 2018, 4:52 p.m.

In the original PAGE file, listed as Mosaic for Encephalocraniocutaneous lipomatosis. In the original PAGE file, MOP listed as Dominant negative for Hartsfield syndrome, and listed as LOF for IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM, KALLMANN SYNDROME TYPE 2. MOP listed as Activating for OSTEOGLOPHONIC DYSPLASIA, Encephalocraniocutaneous lipomatosis and PFEIFFER SYNDROME
Created: 8 Nov 2018, 4:45 p.m.

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.222

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM
OSTEOGLOPHONIC DYSPLASIA
PFEIFFER SYNDROME
KALLMANN SYNDROME TYPE 2
Hartsfield syndrome
Encephalocraniocutaneous lipomatosis

Tags

mosaicism

OMIM

136350

Clinvar variants

Variants in FGFR1

Penetrance

None

Panels with this gene