FGFR3

Green FGFR3 in ClinGen Gene Validity Curations

Version 0.65

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 1.24

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 1.16

Sources

• Expert Review Green
• UKGTN
• Radboud University Medical Center, Nijmegen
• 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 1.34

Sources

• Emory Genetics Laboratory

Green FGFR3 in Hydrocephalus

Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

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 1.17

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 1.27

Sources

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

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 4.23
Latest signed off version: v4.0 (22 Mar 2023)

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 2.47
Latest signed off version: v2.0 (30 Nov 2022)

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• Syringocystadenoma papilliferum
• Epidermal naevi

No list FGFR3 in Multiple monogenic benign skin tumours

Version 2.4
Latest signed off version: v2.0 (30 Nov 2022)

Sources

• Expert Review Removed
• London North GLH
• NHS GMS

Phenotypes

• Epidermal naevi
• Syringocystadenoma papilliferum

Tags

• curated_removed

No list FGFR3 in Monogenic diabetes

Version 2.58
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 5.31
Latest signed off version: v5.0 (22 Mar 2023)

Sources

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

Phenotypes

• CATSHL syndrome 610474

Green FGFR3 in Common craniosynostosis syndromes

Version 1.15
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 4.65
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

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

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 3.169
Latest signed off version: v3.0 (22 Mar 2023)

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 Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.180
Latest signed off version: v4.0 (22 Mar 2023)

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 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Removed
• Emory Genetics Laboratory

Phenotypes

• Disproportionate Short Stature

Tags

• curated_removed

Green FGFR3 in DDG2P

Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

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 Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.39
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert
• Emory Genetics Laboratory

Phenotypes

• hearing loss

Amber FGFR3 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.111
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Amber
• Literature

Phenotypes

• Muenke syndrome, OMIM:602849
• Hypochondroplasia, OMIM:146000

Green FGFR3 in Growth failure in early childhood

Version 3.95
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green

Phenotypes

• Hypochondroplasia, OMIM:146000
• Crouzon syndrome with acanthosis nigricans, OMIM:612247
• Thanatophoric dysplasia, type I, OMIM:187600
• Thanatophoric dysplasia, type II, OMIM:187601

Green FGFR3 in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

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

Phenotypes

• Hypochondroplasia, OMIM:146000
• hypochondroplasia, MONDO:0007793

Red FGFR3 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
Latest signed off version: v5.0 (22 Mar 2023)

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 1.184

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

Green FGFR3 in Thanatophoric dysplasia

Version 1.1
Latest signed off version: v1.0 (14 Sep 2023)

Sources

• Expert Review Green
• NHS GMS