FGFR3

Green FGFR3 in ClinGen Gene Validity Curations

Version 0.64

Sources

• ClinGen
• Expert Review Green
• Other

Phenotypes

• Achondroplasia
• ORPHA15
• OMIM 100800

Green FGFR3 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.14

Sources

• Expert Review Green
• Expert list
• Other

Phenotypes

• LADD syndrome, 149730
• Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs
• short radius

Green FGFR3 in Choanal atresia

Level 3: Choanal anomalies
Level 2: Skeletal disorders
Version 1.15

Sources

• Expert Review Green
• Radboud University Medical Center, Nijmegen
• UKGTN
• Eligibility statement prior genetic testing

Phenotypes

• Crouzon syndrome with acanthosis nigricans 612247

Red FGFR3 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.32

Sources

• Emory Genetics Laboratory

Green FGFR3 in Hydrocephalus

Version 2.115
Latest signed off version: v2.3 (2 Mar 2020)

Sources

• NHS GMS
• Expert Review Green
• Literature

Phenotypes

• Achondroplasia, OMIM:100800
• Thanatophoric dysplasia, OMIM:187600
• Crouzon syndrome with acanthosis nigricans, OMIM:612247
• Muenke syndrome, OMIM:602849

Red FGFR3 in Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.13

Sources

• Expert Review Red
• UKGTN
• Radboud University Medical Center, Nijmegen

Phenotypes

• Hypochondroplasia, 146000
• Crouzon syndrome with acanthosis nigricans, 612247

Green FGFR3 in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.17

Sources

• Emory Genetics Laboratory
• UKGTN
• Radboud University Medical Center, Nijmegen
• Expert Review Green
• Expert list

Phenotypes

• Bilateral Microtia
• 149730
• LADD syndrome (lacrimo auriculo dento digital)
• syndromic features
• Achondroplasia 100800
• Crouzon syndrome with acanthosis nigricans

Green FGFR3 in Limb disorders

Version 2.49
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services
• Emory Genetics Laboratory
• Expert list
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• UKGTN
• Expert Review Green
• London South East RGC GSTT
• Viapath

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

Green FGFR3 in Mosaic skin disorders - deep sequencing

Version 1.5
Latest signed off version: v1.3 (15 Oct 2020)

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• Syringocystadenoma papilliferum
• Epidermal naevi

No list FGFR3 in Multiple monogenic benign skin tumours

Version 1.12
Latest signed off version: v1.3 (15 Oct 2020)

Sources

• Expert Review Removed
• London North GLH
• NHS GMS

Phenotypes

• Epidermal naevi
• Syringocystadenoma papilliferum

Tags

• curated_removed

No list FGFR3 in Monogenic diabetes

Version 2.43
Latest signed off version: v2.2 (25 Feb 2020)

Sources

• Expert Review Removed

Phenotypes

• Hypochondroplasia, 146000
• Crouzon syndrome with acanthosis nigricans, 612247

Tags

• curated_removed

Green FGFR3 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.113
Latest signed off version: v3.2 (13 Feb 2020)

Sources

• Expert Review Green
• Radboud University Medical Center, Nijmegen
• Emory Genetics Laboratory

Phenotypes

• CATSHL syndrome 610474

Green FGFR3 in Common craniosynostosis syndromes

Version 1.13
Latest signed off version: v1.2 (13 Feb 2020)

Sources

• NHS GMS
• Expert list
• Expert Review Green

Phenotypes

• Muenke syndrome OMIM:602849
• Crouzon syndrome with acanthosis nigricans OMIM:612247
• Thanatophoric dysplasia, type I OMIM:187600
• Thanatophoric dysplasia, type II OMIM:187601

Green FGFR3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.113
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services
• Emory Genetics Laboratory
• Expert list
• UKGTN

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

Green FGFR3 in Fetal anomalies

Version 1.700
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

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

Green FGFR3 in Craniosynostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 2.50
Latest signed off version: v2.2 (13 Feb 2020)

Sources

• NHS GMS
• Expert Review Green
• Eligibility statement prior genetic testing
• Expert list

Phenotypes

• Muenke syndrome
• Crouzon syndrome with acanthosis nigricans

No list FGFR3 in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.18
Latest signed off version: v2.2 (13 Feb 2020)

Sources

• Expert Review Removed
• Emory Genetics Laboratory

Phenotypes

• Disproportionate Short Stature

Tags

• curated_removed

Green FGFR3 in DDG2P

Version 2.40
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

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

Red FGFR3 in Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.179
Latest signed off version: v2.5 (13 Feb 2020)

Sources

• Expert
• Emory Genetics Laboratory

Phenotypes

• hearing loss

Green FGFR3 in Growth failure in early childhood

Version 1.71
Latest signed off version: v1.4 (3 Mar 2020)

Sources

• Expert Review Green

Phenotypes

• Hypochondroplasia, 146000

Amber FGFR3 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.400
Latest signed off version: v2.2 (13 Feb 2020)

Sources

• Expert Review Amber
• Wessex and West Midlands GLH
• NHS GMS
• Victorian Clinical Genetics Services

Phenotypes

• Hypochondroplasia, 146000
• Focal Epilepsy
• Muenke syndrome, 602849
• Epilepsy

Red FGFR3 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1214
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services
• Expert Review Red
• Expert Review Red
• Radboud University Medical Center, Nijmegen

Phenotypes

• CATSHL syndrome 610474
• Hypochondroplasia 146000
• SADDAN 616482
• Muenke syndrome 602849
• Thanatophoric dysplasia, type I 187600

Tags

• adult-onset

Green FGFR3 in Severe Paediatric Disorders

Version 1.81

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Thanatophoric dysplasia, type II, 187601
• Muenke syndrome, 602849
• SADDAN, 616482
• Crouzon syndrome with acanthosis nigricans, 612247
• CATSHL syndrome, 610474
• Achondroplasia, 100800
• LADD syndrome, 149730
• Thanatophoric dysplasia, type I, 187600
• Hypochondroplasia, 146000