Gene Symbol:
FGFR1
HGNC:3688
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
8p11.23
Filters:

Definitive classifications

osteoglophonic dwarfism
Submitted as: OMIM:166250
AD
07/22/2015
Evaluated
09/11/2023
Submitted
hypogonadotropic hypogonadism 2 with or without anosmia
Submitted as: OMIM:147950
AD
08/15/2017
Evaluated
03/02/2021
Submitted
Pfeiffer syndrome
Submitted as: OMIM:101600
AD
07/22/2015
Evaluated
09/11/2023
Submitted
hypogonadotropic hypogonadism 7 with or without anosmia
Submitted as: OMIM:146110
AD
07/22/2015
Evaluated
11/25/2020
Submitted
encephalocraniocutaneous lipomatosis
Submitted as: OMIM:613001
SM
06/06/2016
Evaluated
11/25/2020
Submitted
Hartsfield-Bixler-Demyer syndrome
Submitted as: OMIM:615465
AD
11/06/2017
Evaluated
09/11/2023
Submitted
encephalocraniocutaneous lipomatosis
Submitted as: OMIM:613001
AD
06/06/2016
Evaluated
09/11/2023
Submitted
Pfeiffer syndrome type 1
AD
05/21/2021
Evaluated
10/18/2023
Submitted
hypogonadotropic hypogonadism 2 with or without anosmia
Submitted as: OMIM:147950
AD
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

osteoglophonic dwarfism
Submitted as: OMIM:166250
AD
09/15/2022
Evaluated
11/30/2023
Submitted
Pfeiffer syndrome
Submitted as: OMIM:101600
AD
04/22/2021
Evaluated
11/30/2023
Submitted
hypogonadotropic hypogonadism 2 with or without anosmia
Submitted as: OMIM:147950
AD
03/09/2023
Evaluated
11/30/2023
Submitted
Pfeiffer syndrome
Submitted as: OMIM:101600
AD
10/08/2020
Evaluated
11/09/2020
Submitted
Jackson-Weiss syndrome
Submitted as: OMIM:123150
AD
02/13/2020
Evaluated
03/31/2021
Submitted
osteoglophonic dwarfism
Submitted as: OMIM:166250
AD
02/13/2020
Evaluated
03/31/2021
Submitted
Pfeiffer syndrome
Submitted as: OMIM:101600
AD
02/13/2020
Evaluated
03/31/2021
Submitted

Moderate classifications

osteoglophonic dwarfism
Submitted as: OMIM:166250
AD
10/16/2019
Evaluated
03/02/2021
Submitted
Hartsfield-Bixler-Demyer syndrome
Submitted as: OMIM:615465
AD
08/15/2017
Evaluated
03/02/2021
Submitted
Hartsfield-Bixler-Demyer syndrome
AD
03/16/2021
Evaluated
10/18/2023
Submitted

Supportive classifications

tooth agenesis
Submitted as: Orphanet:99798
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
holoprosencephaly
Submitted as: Orphanet:2162
AR
09/14/2021
Evaluated
09/14/2021
Submitted
hypogonadotropic hypogonadism
Submitted as: Orphanet:432
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Kallmann syndrome
Submitted as: Orphanet:478
AD
09/14/2021
Evaluated
09/14/2021
Submitted
isolated trigonocephaly
Submitted as: Orphanet:3366
AD
09/14/2021
Evaluated
09/14/2021
Submitted
septooptic dysplasia
Submitted as: Orphanet:3157
AD
09/14/2021
Evaluated
09/14/2021
Submitted
osteoglophonic dwarfism
Submitted as: Orphanet:2645
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Hartsfield-Bixler-Demyer syndrome
Submitted as: Orphanet:2117
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

osteoglophonic dwarfism
AD
03/22/2021
Evaluated
10/18/2023
Submitted

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