FGFR3

Panel	Reviews	Mode of inheritance	Details
Filter panels 23 panels
Green FGFR3 in ClinGen Gene Validity Curations Version 0.64	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 1.13	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 1.27	review	Not set	Sources Emory Genetics Laboratory
Green FGFR3 in Hydrocephalus Version 2.5 Signed off v.2.3 on 2 Mar 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Achondroplasia 100800 Thanatophoric dysplasia 187600 Crouzon syndrome with acanthosis nigricans 612247 Muenke syndrome 602849
Red FGFR3 in Insulin resistance (including lipodystrophy) Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 2.33 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 Signed off v.1.3 on 15 Oct 2020	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Syringocystadenoma papilliferum Epidermal naevi
No list FGFR3 in Multiple monogenic benign skin tumours Version 1.5 Signed off v.1.3 on 15 Oct 2020	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed London North GLH NHS GMS Phenotypes Epidermal naevi Syringocystadenoma papilliferum
No list FGFR3 in Monogenic diabetes Version 2.3 Signed off v.2.2 on 25 Feb 2020	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Phenotypes Hypochondroplasia, 146000 Crouzon syndrome with acanthosis nigricans, 612247
Green FGFR3 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.55 Signed off v.3.2 on 13 Feb 2020	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes CATSHL syndrome 610474
Green FGFR3 in Common craniosynostosis syndromes Version 1.3 Signed off v.1.2 on 13 Feb 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert list Expert Review Green Phenotypes Muenke syndrome 602849 Crouzon syndrome with acanthosis nigricans 612247 Thanatophoric dysplasia, type I 187600 Thanatophoric dysplasia, type II 187601
Green FGFR3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 2.78 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 1.202 Signed off v.1.92 on 21 Aug 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 2.23 Signed off v.2.2 on 13 Feb 2020	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 2.11 Signed off v.2.2 on 13 Feb 2020	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Disproportionate Short Stature
Green FGFR3 in DDG2P Version 2.18 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 2.146 Signed off v.2.5 on 13 Feb 2020	review	Not set	Sources Expert Emory Genetics Laboratory Phenotypes hearing loss
Green FGFR3 in Growth failure in early childhood Version 1.33 Signed off v.1.4 on 3 Mar 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 2.278 Signed off v.2.2 on 13 Feb 2020	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 3.741 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 1.46	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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

FGFR3

23 panels

Green FGFR3 in ClinGen Gene Validity Curations

Sources

Phenotypes

Green FGFR3 in Radial dysplasia

Sources

Phenotypes

Green FGFR3 in Choanal atresia

Sources

Phenotypes

Red FGFR3 in VACTERL-like phenotypes

Sources

Green FGFR3 in Hydrocephalus

Sources

Phenotypes

Red FGFR3 in Insulin resistance (including lipodystrophy)

Sources

Phenotypes

Green FGFR3 in Deafness and congenital structural abnormalities

Sources

Phenotypes

Green FGFR3 in Limb disorders

Sources

Phenotypes

Green FGFR3 in Mosaic skin disorders - deep sequencing

Sources

Phenotypes

No list FGFR3 in Multiple monogenic benign skin tumours

Sources

Phenotypes

No list FGFR3 in Monogenic diabetes

Sources

Phenotypes

Green FGFR3 in Arthrogryposis

Sources

Phenotypes

Green FGFR3 in Common craniosynostosis syndromes

Sources

Phenotypes

Green FGFR3 in Skeletal dysplasia

Sources

Phenotypes

Green FGFR3 in Fetal anomalies

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Phenotypes

Green FGFR3 in Craniosynostosis

Sources

Phenotypes

No list FGFR3 in Osteogenesis imperfecta

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Phenotypes

Green FGFR3 in DDG2P

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Phenotypes

Red FGFR3 in Hearing loss

Sources

Phenotypes

Green FGFR3 in Growth failure in early childhood

Sources

Phenotypes

Amber FGFR3 in Genetic epilepsy syndromes

Sources

Phenotypes

Red FGFR3 in Intellectual disability

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Phenotypes

Tags

Green FGFR3 in Severe Paediatric Disorders

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Phenotypes