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Skeletal dysplasia

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

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Autosomal dominant with very rare reports of AR Hartsfield syndrome, carrier parents for AR variants were normal.

Kallman syndrome/Hypogonadotropic hypogonadism 2 with or without anosmia - LOF missense and PTCs (PMID: 18034870)
Hartsfield syndrome - LOF hom and het missense (PMID: 23812909). Carrier parents for AR variants were normal.
Craniosynostosis - mosaic GOF missense (PMID: 26942290).
Pfeiffer syndrome - Recurring p.P252R variant (OMIM)
Osteoglophonic dysplasia - GOF missense within the TM domain (PMID: 26942290).
Trigonocephaly/Jackson-Weiss syndrome - Single reports (OMIM)
Created: 13 Nov 2020, 3:27 a.m. | Last Modified: 13 Nov 2020, 3:27 a.m.
Panel Version: 0.5357

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Encephalocraniocutaneous lipomatosis, somatic mosaic 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

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Chirag Patel (Genetic Health Queensland)

no human evidence in non-syndromic CAKUT
Created: 27 Nov 2019, 11:25 p.m. | Last Modified: 27 Nov 2019, 11:25 p.m.
Panel Version: 0.0
no evidence in non-syndromic CAKUT
Created: 27 Nov 2019, 11:25 p.m. | Last Modified: 27 Nov 2019, 11:25 p.m.
Panel Version: 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Hypogonadotropic hypogonadism 2 with or without anosmia 147950
  • Hartsfield syndrome 615465
  • Osteoglophonic dysplasia 166250
  • Pfeiffer syndrome 101600
  • Encephalocraniocutaneous lipomatosis, somatic mosaism 613001
  • Jackson-Weiss syndrome 123150
  • Trigonocephaly 1 190440
OMIM
136350
Clinvar variants
Variants in FGFR1
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, 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 Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia 147950; Hartsfield syndrome 615465; Osteoglophonic dysplasia 166250; Pfeiffer syndrome 101600; Encephalocraniocutaneous lipomatosis, somatic mosaism 613001; Jackson-Weiss syndrome 123150; Trigonocephaly 1 190440