FGFR2

fibroblast growth factor receptor 2
OMIM: 176943, Gene2Phenotype

25 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 25 panels
Amber FGFR2 in Familial hidradenitis suppurativa Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.4	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Nevus comedonicus, multifocal hidradenitis suppurativa and acne
Green FGFR2 in Radial dysplasia Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.24	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 FGFR2 in Choanal atresia Level 3: Choanal anomalies Level 2: Skeletal disorders Version 1.16	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Eligibility statement prior genetic testing Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 Apert syndrome 101200 Beare-Stevenson cutis gyrata syndrome 123790 Pfeiffer syndrome 101600 Craniofacial-skeletal-dermatologic dysplasia 101600 Craniosynostosis, nonspecific
Red FGFR2 in VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.34	review	Not set	Sources Emory Genetics Laboratory
Green FGFR2 in Hydrocephalus Version 4.4 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Apert syndrome, OMIM:101200 Crouzon syndrome, OMIM:123500
Green FGFR2 in Deafness and congenital structural abnormalities Level 3: Deafness and congenital structural abnormalities Level 2: Hearing and ear disorders Version 1.25	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Bilateral Microtia Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 Apert syndrome 101200 Beare-Stevenson cutis gyrata syndrome 123790 Bent bone dysplasia syndrome 614592 Craniofacial-skeletal-dermatologic dysplasia, Pfeiffer syndrome 101600 Crouzon syndrome 123500 LADD syndrome
Green FGFR2 in Limb disorders Version 4.21 Latest signed off version: v4.0 (22 Mar 2023) 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 Polydactyly LADD syndrome 149730 LADD syndrome, 149730 Craniosynostosis, nonspecific Crouzon syndrome 123500 short radius Craniofacial-skeletal-dermatologic dysplasia 101600 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 Gastric cancer, somatic 613659 Beare-Stevenson cutis gyrata syndrome 123790 Jackson-Weiss syndrome 123150 Pfeiffer syndrome 101600 Bent bone dysplasia syndrome 614592 Limb defects most often involved the thumbs, ranging from total aplasia to hypoplastic, digitalized, triphalangeal, and duplicated thumbs Apert syndrome 101200
Amber FGFR2 in Mosaic skin disorders - deep sequencing Version 2.47 Latest signed off version: v2.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Keratinocytic epidermal naevi (KENs) Naevoid acanthosis nigricans RAVEN (round and velvety epidermal naevus) Tags Q3_23_promote_green Q3_23_NHS_review somatic
No list FGFR2 in Multiple monogenic benign skin tumours Version 2.4 Latest signed off version: v2.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed London North GLH NHS GMS Phenotypes Beare-Stevenson cutis gyrata Tags curated_removed
Green FGFR2 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.31 Latest signed off version: v5.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature UKGTN Radboud University Medical Center, Nijmegen Expert list Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
Green FGFR2 in Common craniosynostosis syndromes Version 1.15 Latest signed off version: v1.2 (13 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert list Expert Review Green Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM:207410 Apert syndrome OMIM:101200 Beare-Stevenson cutis gyrata syndrome OMIM:123790 Pfeiffer syndrome OMIM:101600 Craniofacial-skeletal-dermatologic dysplasia OMIM:101600 Crouzon syndrome OMIM:123500 Jackson-Weiss syndrome OMIM:123150 Saethre-Chotzen syndrome OMIM:101400 Scaphocephaly, maxillary retrusion, and mental retardation OMIM:609579
Amber FGFR2 in Disorders of sex development Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 4.4 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes LADD syndrome, OMIM:149730 Bent bone dysplasia syndrome, OMIM:614592
Green FGFR2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Beare-Stevenson cutis gyrata syndrome 123790 Craniosynostosis, nonspecific Crouzon syndrome 123500 Craniofacial-skeletal-dermatologic dysplasia 101600 Pfeiffer syndrome 101600 Gastric cancer, somatic 613659 Jackson-Weiss syndrome 123150 LADD syndrome 149730 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 Apert syndrome 101200 Bent bone dysplasia syndrome 614592
Green FGFR2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 Apert syndrome 101200 Beare-Stevenson cutis gyrata syndrome 123790 Bent bone dysplasia syndrome 614592 Craniofacial-skeletal-dermatologic dysplasia 101600 Craniosynostosis, nonspecific Crouzon syndrome 123500 Gastric cancer, somatic 613659 Jackson-Weiss syndrome 123150 LADD syndrome 149730 Pfeiffer syndrome 101600 Saethre-Chotzen syndrome 101400 Scaphocephaly and Axenfeld-Rieger anomaly Scaphocephaly, maxillary retrusion, and mental retardation 609579
Green FGFR2 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 Apert syndrome 101200 Beare-Stevenson cutis gyrata syndrome 123790 Bent bone dysplasia syndrome 614592 Craniofacial-skeletal-dermatologic dysplasia 101600 Craniosynostosis, nonspecific Crouzon syndrome 123500 Gastric cancer, somatic 613659 Jackson-Weiss syndrome 123150 LADD syndrome 149730 Pfeiffer syndrome 101600 Saethre-Chotzen syndrome 101400 Scaphocephaly and Axenfeld-Rieger anomaly Scaphocephaly, maxillary retrusion, and mental retardation 609579
Green FGFR2 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes BEARE-STEVENSON CUTIS GYRATA SYNDROME LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME JACKSON-WEISS SYNDROME ACROCEPHALOSYNDACTYLY TYPE V FAMILIAL SCAPHOCEPHALY SYNDROME ANTLEY-BIXLER SYNDROME CROUZON SYNDROME APERT SYNDROME
Green FGFR2 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)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Crouzon syndrome, 123500 Jackson-Weiss syndrome, 123150 Beare-Stevenson cutis gyrata syndrome, 123790 Pfeiffer syndrome, 101600 Apert syndrome, 101200 Saethre-Chotzen Craniosynostosis, nonspecific syndrome, 101400 Gastric cance Craniosynostosis
No list FGFR2 in Osteogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Disproportionate Short Stature Tags curated_removed
Green FGFR2 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BEARE-STEVENSON CUTIS GYRATA SYNDROME 123790 ANTLEY-BIXLER SYNDROME 207410 FAMILIAL SCAPHOCEPHALY SYNDROME 609579 JACKSON-WEISS SYNDROME 123150 APERT SYNDROME 101200 CROUZON SYNDROME 123500 LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730 ACROCEPHALOSYNDACTYLY TYPE V 101600
Red FGFR2 in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.38 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert
Green FGFR2 in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.110 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes APERT SYNDROME
Amber FGFR2 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Antley-Bixler syndrome Apert syndrome Crouzon syndrome Beare-Stevenson Cutis Gyrata syndrome
Red FGFR2 in Groopman et al 2019 - Genes with diagnostic variants Version 0.8	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert review red Literature Phenotypes Nephropathy of unknown origin MIM 101600 Pfeiffer syndrome
Red FGFR2 in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green FGFR2 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Saethre-Chotzen syndrome, 101400 Apert syndrome, 101200 Beare-Stevenson cutis gyrata syndrome, 123790 Pfeiffer syndrome, 101600 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 Crouzon syndrome, 123500 Scaphocephaly and Axenfeld-Rieger anomaly Craniofacial-skeletal-dermatologic dysplasia, 101600 Bent bone dysplasia syndrome, 614592 Craniosynostosis, nonspecific LADD syndrome, 149730 Scaphocephaly, maxillary retrusion, and mental retardation, 609579 Jackson-Weiss syndrome, 123150

FGFR2

25 panels

Amber FGFR2 in Familial hidradenitis suppurativa

Sources

Phenotypes

Green FGFR2 in Radial dysplasia

Sources

Phenotypes

Green FGFR2 in Choanal atresia

Sources

Phenotypes

Red FGFR2 in VACTERL-like phenotypes

Sources

Green FGFR2 in Hydrocephalus

Sources

Phenotypes

Green FGFR2 in Deafness and congenital structural abnormalities

Sources

Phenotypes

Green FGFR2 in Limb disorders

Sources

Phenotypes

Amber FGFR2 in Mosaic skin disorders - deep sequencing

Sources

Phenotypes

Tags

No list FGFR2 in Multiple monogenic benign skin tumours

Sources

Phenotypes

Tags

Green FGFR2 in Arthrogryposis

Sources

Phenotypes

Green FGFR2 in Common craniosynostosis syndromes

Sources

Phenotypes

Amber FGFR2 in Disorders of sex development

Sources

Phenotypes

Green FGFR2 in Skeletal dysplasia

Sources

Phenotypes

Green FGFR2 in Undiagnosed metabolic disorders

Sources

Phenotypes

Green FGFR2 in Likely inborn error of metabolism - targeted testing not possible

Sources

Phenotypes

Green FGFR2 in Fetal anomalies

Sources

Phenotypes

Green FGFR2 in Rare syndromic craniosynostosis or isolated multisuture synostosis

Sources

Phenotypes

No list FGFR2 in Osteogenesis imperfecta

Sources

Phenotypes

Tags

Green FGFR2 in DDG2P

Sources

Phenotypes

Red FGFR2 in Monogenic hearing loss

Sources

Green FGFR2 in Clefting

Sources

Phenotypes

Amber FGFR2 in Intellectual disability - microarray and sequencing

Sources

Phenotypes

Red FGFR2 in Groopman et al 2019 - Genes with diagnostic variants

Sources

Phenotypes

Red FGFR2 in Childhood onset dystonia, chorea or related movement disorder

Sources

Green FGFR2 in Severe Paediatric Disorders

Sources

Phenotypes