FGFR2

Panel	Reviews	Mode of inheritance	Details
Filter panels 20 panels
Green FGFR2 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	Unknown	Sources Expert Review Green Genomics England PanelApp Expert list Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green FGFR2 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red FGFR2 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Level 2: Renal and urinary tract disorders Version 0.138 Component of the following Super Panels: Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Kidneyome_SuperPanel	review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Green FGFR2 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green FGFR2 in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Apert syndrome, MIM# 101200 Crouzon syndrome, MIM# 123500 Pfeiffer syndrome, MIM# 101600 Saethre-Chotzen syndrome, MIM# 101400
Green FGFR2 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green FGFR2 in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.123	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Amber FGFR2 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Ectrodactyly, pulmonary acinar dysplasia
Green FGFR2 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410 Apert syndrome, MIM# 101200 Beare-Stevenson cutis gyrata syndrome, MIM# 123790 Bent bone dysplasia syndrome, MIM# 614592 Craniofacial-skeletal-dermatologic dysplasia, MIM# 101600 Craniosynostosis, nonspecific Crouzon syndrome , MIM#123500 Jackson-Weiss syndrome,MIM# 123150 LADD syndrome, MIM# 149730 Pfeiffer syndrome,MIM# 101600 Saethre-Chotzen syndrome 101400
Green FGFR2 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.276 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green
Green FGFR2 in Radial Ray Abnormalities Level 2: Dysmorphic and congenital abnormality syndromes Version 1.10 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes LADD syndrome, MIM#149730
Green FGFR2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Amber FGFR2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, MIM# 207410 Apert syndrome, MIM# 101200
Green FGFR2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Phenotypes Craniosynostosis, nonspecific Crouzon syndrome 123500 Pfeiffer syndrome 101600 Beare-Stevenson cutis gyrata syndrome 123790 Apert syndrome 101200 Gastric cancer, somatic 613659 Craniofacial-skeletal-dermatologic dysplasia 101600 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 Bent bone dysplasia syndrome 614592 Jackson-Weiss syndrome 123150 LADD syndrome 149730
Green FGFR2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Beare-Stevenson cutis gyrata syndrome Crouzon syndrome Apert syndrome Pfeiffer syndrome Jackson-Weiss syndrome
Green FGFR2 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes APERT SYNDROME
Green FGFR2 in Mosaic skin disorders Level 2: Dermatological disorders Version 1.12 Component of the following Super Panels: Vascular Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Keratinocytic epidermal naevi Tags somatic
Green FGFR2 in Choanal atresia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.5	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services Phenotypes Apert syndrome 101200 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 Craniosynostosis, nonspecific Pfeiffer syndrome 101600 Craniofacial-skeletal-dermatologic dysplasia 101600 Beare-Stevenson cutis gyrata syndrome 123790
Green FGFR2 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes LADD syndrome, MIM#149730 Apert syndrome, MIM# 101200 Crouzon syndrome, MIM# 123500 Jackson-Weiss syndrome, MIM# 123150 Pfeiffer syndrome, MIM# 101600 Saethre-Chotzen syndrome, MIM# 101400
Red FGFR2 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410 Apert syndrome, MIM# 101200 Beare-Stevenson cutis gyrata syndrome, MIM# 123790 Bent bone dysplasia syndrome, MIM# 614592 Craniofacial-skeletal-dermatologic dysplasia, MIM# 101600 Crouzon syndrome , MIM#123500 Jackson-Weiss syndrome,MIM# 123150 LADD syndrome, MIM# 149730 Pfeiffer syndrome,MIM# 101600 Saethre-Chotzen syndrome 101400

FGFR2

20 panels

Green FGFR2 in Skeletal Dysplasia_Fetal

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Green FGFR2 in Arthrogryposis

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Red FGFR2 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

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Green FGFR2 in Congenital Heart Defect

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Green FGFR2 in Craniosynostosis

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Phenotypes

Green FGFR2 in Differences of Sex Development

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Green FGFR2 in Hydrocephalus_Ventriculomegaly

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Amber FGFR2 in Interstitial Lung Disease

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Phenotypes

Green FGFR2 in Mendeliome

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Phenotypes

Green FGFR2 in Polydactyly

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Green FGFR2 in Radial Ray Abnormalities

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Phenotypes

Green FGFR2 in Callosome

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Amber FGFR2 in Intellectual disability syndromic and non-syndromic

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Phenotypes

Green FGFR2 in Skeletal dysplasia

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Phenotypes

Green FGFR2 in Additional findings_Paediatric

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Phenotypes

Green FGFR2 in Clefting disorders

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Phenotypes

Green FGFR2 in Mosaic skin disorders

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Phenotypes

Tags

Green FGFR2 in Choanal atresia

Sources

Phenotypes

Green FGFR2 in Fetal anomalies

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Phenotypes

Red FGFR2 in BabyScreen+ newborn screening

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Phenotypes