Gene Symbol:
FGFR2
HGNC:3689
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
10q26.13
Filters:

Definitive classifications

Crouzon syndrome
Submitted as: OMIM:123500
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Pfeiffer syndrome
Submitted as: OMIM:101600
AD
08/31/2018
Evaluated
03/02/2021
Submitted
AD
12/23/2021
Evaluated
04/21/2024
Submitted
Beare-Stevenson cutis gyrata syndrome
AD
03/31/2022
Evaluated
04/21/2024
Submitted
LADD syndrome 1
Submitted as: OMIM:149730
MIT
09/24/2017
Evaluated
09/11/2023
Submitted
Apert syndrome
Submitted as: OMIM:101200
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Crouzon syndrome
Submitted as: OMIM:123500
AD
08/31/2018
Evaluated
03/02/2021
Submitted
AD
03/21/2022
Evaluated
04/21/2024
Submitted
Pfeiffer syndrome
Submitted as: OMIM:101600
AD
07/22/2015
Evaluated
09/11/2023
Submitted
LADD syndrome 1
Submitted as: OMIM:149730
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Jackson-Weiss syndrome
Submitted as: OMIM:123150
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Submitted as: OMIM:207410
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Beare-Stevenson cutis gyrata syndrome
Submitted as: OMIM:123790
AD
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

LADD syndrome 1
Submitted as: OMIM:149730
AD
11/03/2022
Evaluated
11/30/2023
Submitted
Pfeiffer syndrome
Submitted as: OMIM:101600
AD
03/30/2021
Evaluated
11/30/2023
Submitted
bent bone dysplasia syndrome 1
Submitted as: OMIM:614592
AD
04/19/2021
Evaluated
11/30/2023
Submitted
Pfeiffer syndrome
Submitted as: OMIM:101600
AD
10/08/2020
Evaluated
11/09/2020
Submitted
Crouzon syndrome
Submitted as: OMIM:123500
AD
10/08/2020
Evaluated
11/09/2020
Submitted
Saethre-Chotzen syndrome
Submitted as: OMIM:101400
AD
10/08/2020
Evaluated
11/09/2020
Submitted
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Submitted as: OMIM:207410
AD
02/13/2020
Evaluated
03/31/2021
Submitted
Saethre-Chotzen syndrome
Submitted as: OMIM:101400
AD
02/13/2020
Evaluated
03/31/2021
Submitted
Apert syndrome
Submitted as: OMIM:101200
AD
02/13/2020
Evaluated
03/31/2021
Submitted
Beare-Stevenson cutis gyrata syndrome
Submitted as: OMIM:123790
AD
02/13/2020
Evaluated
03/31/2021
Submitted
Pfeiffer syndrome
Submitted as: OMIM:101600
AD
02/13/2020
Evaluated
03/31/2021
Submitted
Crouzon syndrome
Submitted as: OMIM:123500
AD
02/13/2020
Evaluated
03/31/2021
Submitted
Jackson-Weiss syndrome
Submitted as: OMIM:123150
AD
02/13/2020
Evaluated
03/31/2021
Submitted
familial scaphocephaly syndrome, McGillivray type
Submitted as: OMIM:609579
AD
02/13/2020
Evaluated
03/31/2021
Submitted

Moderate classifications

bent bone dysplasia syndrome 1
Submitted as: OMIM:614592
AD
08/30/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

bent bone dysplasia syndrome 1
Submitted as: Orphanet:313855
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Pfeiffer syndrome type 3
Submitted as: Orphanet:93260
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial scaphocephaly syndrome, McGillivray type
Submitted as: Orphanet:168624
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Pfeiffer syndrome type 2
Submitted as: Orphanet:93259
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Pfeiffer syndrome type 1
Submitted as: Orphanet:93258
AD
09/14/2021
Evaluated
09/14/2021
Submitted
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Beare-Stevenson cutis gyrata syndrome
Submitted as: Orphanet:1555
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Jackson-Weiss syndrome
Submitted as: Orphanet:1540
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Apert syndrome
Submitted as: Orphanet:87
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Crouzon syndrome
Submitted as: Orphanet:207
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Antley-Bixler syndrome
Submitted as: Orphanet:83
AD
09/14/2021
Evaluated
09/14/2021
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.