FGFR3

fibroblast growth factor receptor 3
OMIM: 134934
PanelMode of inheritanceDetails
10 panels
R-numbers: R83
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CATSHL syndrome 610474
R-numbers: R99
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Muenke syndrome 602849, Crouzon syndrome with acanthosis nigricans 612247, Thanatophoric dysplasia, type I 187600, Thanatophoric dysplasia, type II 187601
R-numbers: R100
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Muenke syndrome, Crouzon syndrome with acanthosis nigricans
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
THANATOPHORIC DYSPLASIA TYPE 2 187601, THANATOPHORIC DYSPLASIA TYPE 1 187600, MUENKE SYNDROME 602849, ACHONDROPLASIA 100800, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS 612247, CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME 610474, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730, HYPOCHONDROPLASIA 146000
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, MUENKE SYNDROME, ACHONDROPLASIA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME, HYPOCHONDROPLASIA, THANATOPHORIC DYSPLASIA TYPE 2, THANATOPHORIC DYSPLASIA TYPE 1
R-numbers: R147
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypochondroplasia, 146000
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Achondroplasia 100800, Thanatophoric dysplasia 187600, Crouzon syndrome with acanthosis nigricans 612247, Muenke syndrome 602849
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Thanatophoric dysplasia, type II 187601, Polydactyly, LADD syndrome 149730, LADD syndrome, 149730, short radius, Achondroplasia 100800, SADDAN 616482, Thanatophoric dysplasia, type I 187600, Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs, Hypochondroplasia 146000, CATSHL syndrome 610474, Crouzon syndrome with acanthosis nigricans 612247, Muenke syndrome 602849
R-numbers: R327
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Syringocystadenoma papilliferum, Epidermal naevi
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Thanatophoric dysplasia, type I 187600, Muenke syndrome 602849, CATSHL syndrome 610474, SADDAN 616482, Thanatophoric dysplasia, type II 187601, Achondroplasia 100800, LADD syndrome 149730, Hypochondroplasia 146000, Crouzon syndrome with acanthosis nigricans 612247