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  3. FGFR1
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Fetal anomalies

Gene: FGFR1

Green List (high evidence)
FGFR1 (fibroblast growth factor receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000077782
EnsemblGeneIds (GRCh37): ENSG00000077782
OMIM: 136350, Gene2Phenotype
FGFR1 is in 22 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Pfeiffer syndrome, MIM# 101600

Created: 6 Oct 2020, 9:35 p.m.
Last Modified: 6 Oct 2020, 9:35 p.m.
Panel version: Imported from Hydrocephalus_Ventriculomegaly panel version 0.59

Tiong Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Disease mechanism is GOF
Hydrocephalus is a well-established feature of FGFR-related craniosynostoses such as FGFR1-related Pfeiffer syndrome
Created: 6 Oct 2020, 11:20 a.m. | Last Modified: 6 Oct 2020, 11:20 a.m.
Panel Version: 0.59

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pfeiffer syndrome

Mode of pathogenicity
Other

Created: 6 Oct 2020, 11:20 a.m.
Last Modified: 6 Oct 2020, 11:20 a.m.
Panel version: Imported from Hydrocephalus_Ventriculomegaly panel version 0.59

History Filter Activity

21 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgfr1 has been classified as Green List (High Evidence).

21 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FGFR1 were changed from Hartsfield syndrome; Encephalocraniocutaneous lipomatosis; OSTEOGLOPHONIC DYSPLASIA; KALLMANN SYNDROME TYPE 2; PFEIFFER SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM to Pfeiffer syndrome, MIM# 101600

21 Dec 2021, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: FGFR1 was changed from to Other

21 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FGFR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FGFR1 was added gene: FGFR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGFR1 were set to Hartsfield syndrome; Encephalocraniocutaneous lipomatosis; OSTEOGLOPHONIC DYSPLASIA; KALLMANN SYNDROME TYPE 2; PFEIFFER SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM