FGFR1

Green FGFR1 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.65

Sources

• Expert Review Green
• Literature

Green FGFR1 in Hydrocephalus

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

Sources

• NHS GMS
• Expert Review Green
• Literature

Phenotypes

• Pfeiffer syndrome, OMIM:101600

Red FGFR1 in Hypophosphataemia or rickets

Version 3.4
Latest signed off version: v3.0 (30 Nov 2022)

Sources

• Expert Review Red
• Emory Genetics Laboratory
• Literature

Phenotypes

• Osteoglophonic dysplasia (166250)
• Hypophosphatemia

Green FGFR1 in Pituitary hormone deficiency

Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center
• Emory Genetics Laboratory

Phenotypes

• Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950
• Hartsfield syndrome, OMIM:615465
• Pfeiffer syndrome, OMIM:101600
• Jackson-Weiss syndrome, OMIM:123150

Green FGFR1 in Limb disorders

Version 4.21
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

• Encephalocraniocutaneous lipomatosis, somatic mosaism, 613001
• Hartsfield syndrome, 615465
• Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
• Jackson-Weiss syndrome, 123150
• Osteoglophonic dysplasia, 166250
• Pfeiffer syndrome,101600
• Trigonocephaly 1,190440
• Polydactyly

Green FGFR1 in Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.41

Sources

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

Phenotypes

• Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
• Beare-Stevenson Cutis Gyrata Syndrome, 123790
• Crouzon Syndrome, 123500
• Pfeiffer Syndrome, 101600
• Endocrine Disorders including conditions such as hypogonadotropic hypogonadism (with or without anosmia): Sequencing Panel (Emory)
• Pfeiffer syndrome, 101600
• Jackson-Weiss syndrome, 123150
• Osteoglophonic dysplasia, 166250
• Trigonocephaly 1, 190440
• Hartsfield syndrome, 615465
• Nonsyndromic Trigonocephaly

Tags

• monogenic-polygenic

Green FGFR1 in Hypogonadotropic hypogonadism (GMS)

Version 3.18
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• Wessex and West Midlands GLH
• NHS GMS
• South West GLH

Phenotypes

• Hypogonadotropic hypogonadism type 2(OMIM 147950)

Green FGFR1 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

• Epidermal naevi

Green FGFR1 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

• Jackson-Weiss syndrome OMIM:123150
• Osteoglophonic dysplasia OMIM:166250
• Pfeiffer syndrome OMIM:101600
• Trigonocephaly 1 OMIM:190440

Green FGFR1 in Holoprosencephaly - NOT chromosomal

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Expert Review

Phenotypes

• Hartsfield syndrome, 615465

Green FGFR1 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:

Sources

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

Phenotypes

• Hypogonadotropic hypogonadism 2 with or without anosmia 147950
• Encephalocraniocutaneous lipomatosis, somatic mosaism 613001
• Pfeiffer syndrome 101600
• Trigonocephaly 1 190440
• Hartsfield syndrome 615465
• Jackson-Weiss syndrome 123150
• Osteoglophonic dysplasia 166250

Green FGFR1 in Fetal anomalies

Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM
• OSTEOGLOPHONIC DYSPLASIA
• PFEIFFER SYNDROME
• KALLMANN SYNDROME TYPE 2
• Hartsfield syndrome
• Encephalocraniocutaneous lipomatosis

Tags

• mosaicism

Green FGFR1 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
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Craniosynostosis

No list FGFR1 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 FGFR1 in DDG2P

Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950
• Encephalocraniocutaneous lipomatosis, OMIM:613001
• PFEIFFER SYNDROME, OMIM:101600
• OSTEOGLOPHONIC DYSPLASIA, OMIM:166250
• Hartsfield syndrome, OMIM:615465

Tags

• mosaicism

Red FGFR1 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:

Sources

• Expert

Green FGFR1 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:

Sources

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

Phenotypes

• Hartsfield syndrome, 615465
• Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
• Kallmann syndrome 2

Red FGFR1 in Growth failure in early childhood

Version 3.94
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red

Red FGFR1 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:

Sources

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

Phenotypes

• Hartsfield syndrome, OMIM:615465
• Pfeiffer syndrome, OMIM:101600
• Encephalocraniocutaneous lipomatosis, somatic mosaic, OMIM:613001

Green FGFR1 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Pfeiffer syndrome, 101600
• Osteoglophonic dysplasia, 166250
• Hypogonadotropic hypogonadism 2 with or without anosmia, 147950
• Hartsfield syndrome, 615465
• Jackson-Weiss syndrome, 123150
• Trigonocephaly 1, 190440