Gene Symbol:
FGFR3
HGNC:3690
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
4p16.3
Filters:

Definitive classifications

LADD syndrome 1
Submitted as: OMIM:149730
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Achondroplasia
Submitted as: OMIM:100800
AD
08/20/2015
Evaluated
12/24/2020
Submitted
thanatophoric dysplasia type 1
AD
12/23/2021
Evaluated
04/21/2024
Submitted
Crouzon syndrome-acanthosis nigricans syndrome
AD
11/18/2021
Evaluated
04/21/2024
Submitted
AD
09/28/2023
Evaluated
04/21/2024
Submitted
thanatophoric dysplasia type 2
AD
01/31/2022
Evaluated
04/21/2024
Submitted
Muenke syndrome
Submitted as: OMIM:602849
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Muenke syndrome
Submitted as: OMIM:602849
AD
08/20/2015
Evaluated
12/24/2020
Submitted
Crouzon syndrome-acanthosis nigricans syndrome
Submitted as: OMIM:612247
AD
08/20/2015
Evaluated
12/24/2020
Submitted
Achondroplasia
Submitted as: OMIM:100800
AD
07/22/2015
Evaluated
09/11/2023
Submitted
thanatophoric dysplasia type 1
Submitted as: OMIM:187600
AD
07/22/2015
Evaluated
09/11/2023
Submitted
hypochondroplasia
Submitted as: OMIM:146000
AD
07/22/2015
Evaluated
09/11/2023
Submitted
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Submitted as: OMIM:610474
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Crouzon syndrome-acanthosis nigricans syndrome
Submitted as: OMIM:612247
AD
07/22/2015
Evaluated
09/11/2023
Submitted
thanatophoric dysplasia type 2
Submitted as: OMIM:187601
AD
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

Muenke syndrome
Submitted as: OMIM:602849
AD
05/18/2021
Evaluated
11/30/2023
Submitted
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Submitted as: OMIM:610474
AD
08/31/2021
Evaluated
11/30/2023
Submitted
Achondroplasia
Submitted as: OMIM:100800
AD
04/21/2023
Evaluated
11/30/2023
Submitted
severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Submitted as: OMIM:616482
AD
08/31/2021
Evaluated
11/30/2023
Submitted
Crouzon syndrome-acanthosis nigricans syndrome
Submitted as: OMIM:612247
AD
02/13/2020
Evaluated
03/31/2021
Submitted
thanatophoric dysplasia type 2
Submitted as: OMIM:187601
AD
05/21/2021
Evaluated
11/30/2023
Submitted
Muenke syndrome
Submitted as: OMIM:602849
AD
02/13/2020
Evaluated
03/31/2021
Submitted
hypochondroplasia
Submitted as: OMIM:146000
AD
03/24/2023
Evaluated
11/30/2023
Submitted
thanatophoric dysplasia type 1
Submitted as: OMIM:187600
AD
08/20/2015
Evaluated
12/24/2020
Submitted
Crouzon syndrome-acanthosis nigricans syndrome
Submitted as: OMIM:612247
AD
10/08/2020
Evaluated
11/09/2020
Submitted
hypochondroplasia
Submitted as: OMIM:146000
AD
08/20/2015
Evaluated
12/24/2020
Submitted
Muenke syndrome
Submitted as: OMIM:602849
AD
10/08/2020
Evaluated
11/09/2020
Submitted
Achondroplasia
Submitted as: OMIM:100800
AD
01/29/2021
Evaluated
03/31/2021
Submitted
thanatophoric dysplasia type 2
Submitted as: OMIM:187601
AD
02/13/2020
Evaluated
03/31/2021
Submitted
thanatophoric dysplasia type 1
Submitted as: OMIM:187600
AD
02/13/2020
Evaluated
03/31/2021
Submitted
Crouzon syndrome-acanthosis nigricans syndrome
Submitted as: OMIM:612247
AD
09/25/2020
Evaluated
11/30/2023
Submitted

Moderate classifications

camptodactyly-tall stature-scoliosis-hearing loss syndrome
SD
06/07/2022
Evaluated
04/21/2024
Submitted
severe achondroplasia-developmental delay-acanthosis nigricans syndrome
AD
05/09/2022
Evaluated
04/21/2024
Submitted
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Submitted as: OMIM:610474
AR
08/30/2018
Evaluated
12/24/2020
Submitted

Supportive classifications

Crouzon syndrome-acanthosis nigricans syndrome
Submitted as: Orphanet:93262
AD
09/14/2021
Evaluated
09/14/2021
Submitted
thanatophoric dysplasia type 2
Submitted as: Orphanet:93274
AD
09/14/2021
Evaluated
09/14/2021
Submitted
severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Submitted as: Orphanet:85165
AD
09/14/2021
Evaluated
09/14/2021
Submitted
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Submitted as: Orphanet:85164
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Muenke syndrome
Submitted as: Orphanet:53271
AD
09/14/2021
Evaluated
09/14/2021
Submitted
isolated brachycephaly
Submitted as: Orphanet:35099
AD
09/14/2021
Evaluated
09/14/2021
Submitted
isolated plagiocephaly
Submitted as: Orphanet:35098
AD
09/14/2021
Evaluated
09/14/2021
Submitted
thanatophoric dysplasia type 1
Submitted as: Orphanet:1860
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hypochondroplasia
Submitted as: Orphanet:429
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Achondroplasia
Submitted as: Orphanet:15
AD
09/14/2021
Evaluated
09/14/2021
Submitted
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

LADD syndrome 1
Submitted as: OMIM:149730
AD
08/31/2021
Evaluated
11/30/2023
Submitted
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Submitted as: OMIM:610474
AR
08/31/2021
Evaluated
11/30/2023
Submitted

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