BRIDGE_SPEED_NEURO_20170705
Gene: FGFR2

FGFR2 (fibroblast growth factor receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 23 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known;in_UKGTN_v12 . Main mutation mechanism : Activating; Uncertain
Created: 28 Jul 2017, 9:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

25529582
24896178
Version 12 ukgtn.nhs.uk

Mode of pathogenicity
Other

Created: 2 Aug 2017, 3:10 p.m.

Panel version: 0.191

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Crouzon syndrome, 123500
Jackson-Weiss syndrome, 123150
Beare-Stevenson cutis gyrata syndrome, 123790
Pfeiffer syndrome, 101600
Apert syndrome, 101200
Saethre-Chotzen syndrome, 101400
Craniosynostosis, nonspecific
Gastric cancer, somatic, 613659
Craniofacial-skeletal-dermatologic dysplasia, 101600
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410
Scaphocephaly and Axenfeld-Rieger anomaly
LADD syndrome, 149730
Scaphocephaly, maxillary retrusion, and mental retardation, 609579
Bent bone dysplasia syndrome, 614592

OMIM

176943

Clinvar variants

Variants in FGFR2

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

FGFR2 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created